2 3 4 6 8 Pompe 8 10 (Homocystinuria) 13 18 23 26 28 31 A-1 A-6 A-15 9091 92 A-24 A-29 A-33 ICD-9-CM A-40 A-45 1
2
3
89 2 9 8 9 73 93 114 71 40 1,350 1,098 4
5 90 10 31 91 8 30
(1) (2) (3) (4) 75 79 88 (1) (2) (3) 91 12 25 07-3114995 07-3110947 http://www.kmuh.org.tw/www/ccgd/welcome.html 6
7
8 Pompe lysosome Glycogen Acid Maltase -glucosidase X PR
9 3 2 X
Inborn error of metabolism, IEM --- Organic acidemias Aminoacidopathies Fatty metabolic disorders Lysosomal storage disease, LSD Metabolic disorders of porphyrins Metabolic disorders of purines and pyrimidines Metabolic disorders of metals Transport disorders 酶 Enzyme replacement therapy, ERT 10
8,000 Mannose-6-phosphate-receptor-mediated pathway ERT ERT Gaucher disease type 1 CerezymeRecombinant human acid -glucosidase Fabry disease Fabrazyme ReplagalRecombinant human -galactosidase --- / Mucopolysaccharidosis type I, Hurler/Schiei syndrome AldurazymeRecombinant human -L-Iduronidase --- Glycogen storage disease type II, Pompe disease Acid -glucosidase / Phase 1/2 Phase 3 Arylsulphatase Iduronate-2-sulphatase ERT ERT LSD Pharmacological chaperones Enzyme enhancement therapy, EET 11
酶 X 酶 Y 酶 Z A B C D 酶 X A A A 酶 酶 D 酶 Y B B D B B 酶 Y D D 12
(Homocystinuria) ( 46 mmhg) (Methionine) 772µmol/L (Homocystine) 47.09µM (Silver nitroprusside test Cyanide nitroprusside test) (0.804 ± 0.01 g/cm 2 ) 40 (Hominex-2) (Folic acid)betaine B6Aspirin Persantin Methionine Homocystine undetectable 0.3%-5% (methionine, MET) methionine-s-adenosyltransferase, MAT S-adenosylmethionine (homocysteine) (homocysteine) (MET) (cysteine) (homocystine) CBS { (cystathionine-β-synthase, CBS)} (cysteine) methylmalonic aciduria (homocystinuria) 13
1. Methylenetetrahydrofolate reductase 2. 5-methyltetrahydrofolate-homocysteine methyltransferase 3. CBS CBS CBS 14
(CBS ) 1984 4 (newborn screen) 1mg/dL blood CBS : 骺 15
() B6 B6 CBS CBS B6 CBS CBS 13% B6 B6 25mg 100mg B6 1gm B6 B6 () B6 B6 1000mg/day (Hominex-2) (L-cysteine) (betaine) Betaine (methylation) 16
(folic acid) B12 (folate) B12 () 2 4 18 45 µmol/l 25 50 µmol/l () (methionine) (L-Cystine) (Betaine) (Folate) (kcal/day) (g/day) (mg/kg/day) (mg/kg/day) (g/day) (mg/day) 0-6 120/kg 3-3.5/kg 35 (20-50) 250-300 1-3 0.5-1.0 6-12 115/kg 2.5-3/kg 28 (15-40) 200-250 1-3 0.5-1.0 1-4 900-1800 30 20 (10-30) 150 (100-200) 3-6 1-3 4-7 1300-2300 35 15 (10-20) 150 (100-200) 3-6 1-3 7-11 1650-3300 40 15 (10-20) 150 (100-200) 3-6 1-3 11-19 1500-3300 50-65 15 (10-20) 75 (50-60) 3-6 1-3 : nutrition support of Inborn Errors of Metabolism in Handbood of Pediatirc Nutrition. 2 nd ed. 1999. p255 Aspirin Persantin Vit B6 17
Dwarf midgets 100 ( 92 74 ) 75-90% 0% 50% 25% 25% 1994 John Wasmuth 4 3 (fibroblast growth factor receptor-3 gene, FGFR3 ) G1138A (G380Rglycine to arginine)? ( ) 18
O ( ) ( ) (2-3 ) ( 1998 / 193 J Med Genet 1998; 35: 705-12) (18.6%) 11% 2 8% 16% 80% 40% 16% 3%? 90-98%? 131.5 123.4 7-13 1997 35? 19
3-4 ( ) 2-3 (5-6 )? ; 3% 5% < 5% ( restrictive pulmonary disease ) ( reactive airway disease ( arm span ) (occipital frontal circumferenceocf ) 1 1 9 6-12 1 1 5 2 5 13 20
5 13 21 20-30? ( ) LPA (Little People of America)HGF (Human Growth Foundation) http://www2.mmh.org.tw/ssd/little.htm - TEL: (02)25433535-2489 http://mylittlebaby.idv.tw 04-2325-2406 National Library of Medicine Genetics Home Reference Achondroplasia NCBI Genes and Disease Webpage Achondroplasia Human Growth Foundation 21
Phone: 800-451-6434 Fax: 516-671-4055 Email: hgf1@hgfound.org www.hgfound.org Little People of America (LPA) Phone: 888-LPA-2001 (888-572-2001); 503-846-1562 Fax: 503-846-1590 Email: info@lpaonline.org www.lpaonline.org MAGIC Foundation for Children's Growth Phone: 708-383-0808 Fax: 708-383-0899 Email: mary@magicfoundation.org www.magicfoundation.org 22
(Huntington s chorea) 1872 1. 30-55 2 92 21 Westphal variant 2. (1) saccadic eye movements clumsiness bradykinesia dystonia 17 23
myoclonus seizures (2) (irritability) major depressive disorder mania apathy (3) subcortical dementia caudate nucleus putamen corpus striatum, 20% huntingtin exon CAG huntingtin Huntingtin allele CAG 30 40 36 39 30 35 Anticipation 24
60 huntingtin CAG 苷 2001 8 Neurology 347 酶 coenzynme Q10 NMDA remacemide 30 coenzyme Q10 caspase inhibitor minocycline, creatine, lithium, ethyl eicosapentaenoic acid, cystamine, bile acids,inhibitors of transglutaminase typical neuroleptic Amantadine tetrabenazine olanzapine SSRI carbamazepine valproic acid 25
(Kabuki syndrome) 1981 (Kuroki) (Niikawa) Niikawa-Kuroki syndrome - Kabuki make-up syndrome () (long palpebral fissures)(100%) (large protruding ears) (ectropion, eversion of the lateral one-third of the lower palpebrae)(98%) (arched eyebrows) (88%) (depressed nasal tip)(79%) (85%) (micrognathia)() ( )(brachydactyly) (clinodactyly)(89%) (scoliosis)(49%) () (digital ulnar loops) c d (digital triradius c, d) bc cd (interdigital triradius bc, cd) (hypothenar loops) (fetal fingertip pads) (75%)() IQ 50-62 () ( )(73%) 腭 (high-arched palate) 腭 (cleft palate) (cleft lip) (lower pits) ( ) (hypotonia) (epilepsy) (feeding problems) (microcephaly 30-50%) (33%) (strabismus) ( ) 1/32,000 ( () () 26
10-12 (X Y) Y X Y ( ) - (variable expressivity) 1. 2. : ( ) 50% (germline cells) (mosaic mutations) IQ 80 27
(collagen) (production and resorption) (remodeling) (osteoblast) (procollagen type I) osteonectinosteocalcin proteoglycanalkaline phosphate (osteoclast) (cross-link) 85-90 99 85 (osteogenesis imperfecta) (brittle bone disease) (procollagen) 1 2 1000 Gly-X-Y COL1A1 17q21.3-q22 COL1A2 7q22.1 28
I Ia Ib II III IV IVa IVb X Dual-energy x-ray absorptiometry(dexa) X Pamidronate 30mg/m 2 X 0.224 gms/cm2 0.382 gms/cm2z score -5.3-1.3 29
(rod fixation) pamidronate Brumsen (1997)Bembi B (1997) Glorieux FH (1998) pamidronate pamidronate Pamidronate 30mg/ m 2 (biphosphate) 30
92.5.2. Levocarnitine Thalidomide citrulline, oral solution, 1 g/10 ml citrulline 92.11.18. Risedronate Bosentan, 62.5 and 125 mg tablet 1. 2. Laronidase, 100 units/ml solution for infusion Tretinoin, soft gelatin capsules 10 mg Tetrahydrobiopterin (BH4) 50 mg/tab Diazoxide persistent hyperinsulinemic hypoglycemia of infancy (PHHI) 92.12.04. 31
( 92.12.25) 01 Urea cycle disorders 89.12.7 02 01 Citrullinemia 89.12.7 Amino acid metabolic disorders ( Aminoacidopathies) A-1 89.12.7 01 Homocystinuria 89.12.7 1 Hypermethioninemia 89.12.7 02 Cystinosis 89.12.7 03 Nonketotic hyperglycinemia 89.12.7 04 Phenylketonuria 89.12.7 05 Tetrahydrobiopterin deficiency 89.12.7 06 Hereditary tyrosinemia 89.12.7 07 Maple syrup urine disease 89.12.7 03 Hereditary coproporphyria 89.12.7 04 Multiple sclerosis 89.12.7 05 Gaucher's disease 89.12.7 06 Wilson's disease 89.12.7 07 Nesidioblastosis 89.12.7 08 Amyotrophic lateral sclerosis (ALS) 89.12.7 09 Organic acidemias 89.12.7 01 Isovaleric acidemia 89.12.7 02 Glutaric aciduria type I, II 89.12.7 03 Propionic acidemia 89.12.7 04 Methylmalonic acidemia 89.12.7 05 3-Hydroxy-3-methyl-glutaric acidemia 3- -3-89.12.7 10 Galactosemia 89.12.7 11 Fatty acid oxidation defect 89.12.7 01 Carnitine deficiency syndrome, primary 89.12.7
12 Mitochondrial defect 89.12.7 01 Kearns-Sayre syndrome Kearns-Sayre 89.12.7 02 Leigh disease Leigh 89.12.7 03 MELAS MELAS 89.12.7 04 Mitochondrial Neurogastrointestinal Encephalopathy Syndrome MNGIE 92.6.13 13 Aarskog-Scott syndrome Aarskog-Scott 89.12.7 14 Achondroplasia 89.12.7 15 Angelman syndrome Angelman 89.12.7 16 Ataxia telangiectasia 89.12.7 17 Cockayne syndrome Cockayne 89.12.7 18 Duchenne muscular dystrophy 89.12.7 19 Glycogen storage disease 89.12.7 20 GM1/GM2 gangliosidosis GM1/GM2 89.12.7 21 Hereditary epidermolysis bullosa 89.12.7 22 23 Huntington disease Huntington's chorea) Hutchinson Gilford progeria syndrome 24 Ichthyosis, lamellar recessive 89.12.7 89.12.7 89.12.7 25 Kenny-Caffey syndrome Kenny-Caffey 89.12.7 26 Lesch-Nyhan syndrome Lesch-Nyhan 89.12.7 27 Lowe syndrome Lowe 89.12.7 28 Mucopolysaccharidoses 89.12.7 29 Osteogenesis imperfecta 89.12.7 30 Pseudohypoparathyroidism 89.12.7 31 Rett syndrome 89.12.7 32 Spinal muscular atrophy 89.12.7 33 Spinocerebellar ataxia 89.12.7 34 Sulfite oxidase deficiency 酶 89.12.7 35 Thalassemia major 89.12.7 36 Tuberous sclerosis 89.12.7 37 Waardenburg syndrome 89.12.7 A-2
38 X-linked hypophosphatemic rickets 89.12.7 39 Zellweger syndrome Zellweger 89.12.7 40 89.12.19 Progressive intrahepatic cholestasis 89.12.7 PFIC 89.12.19 41 Inborn errors of bile acid synthesis 89.12.7 89.12.19 42 Primary Paget disease 89.12.7 01 Urea cycle disorders 90.3.15 02 03 Nitroacetylglutamate synthetase deficiency,nag synthetase deficiency Ornithine transcarbamylase deficiency 90.3.15 酶 90.3.15 43 Apert syndrome 90.3.15 44 Cleidocranial dysplasia 90.3.15 45 DiGeorge's syndrome DiGeorge's 90.3.15 46 Homozygous familial hypercholesterolemia 90.3.15 47 Fucosidosis 90.3.15 48 PAH type PKU combine with Sucrase-isomaltase deficiency 苷 90.3.15 酶 49 Nemaline Rod Myopathy Nemaline 90.6.12 50 Fibrodysplasia Ossificans Progressiva 90.7.10 51 Menkes syndrome Menkes 90.10.18 52 Fabry disease Fabry 90.10.18 53 Prader-Willi syndrome Prader-Willi 90.10.18 54 Niemann-Pick Niemann-Pick 90.10.18 55 Tricho-hepato-enteric syndrome 90.10.18 56 Collodion baby 90.12.13 57 Harlequin ichthyosis 90.12.13 A-3
58 Bullous Congenital ichthyosiform erythoderma 90.12.13 59 Laron syndromelaron Dwarfism Laron 90.12.13 60 Smith-lemli-opitz syndrome Smith-Lemli-Opitz 90.12.13 61 Bardet-Biedl syndrome Bardet-Biedl 90.12.13 62 Larsen syndrome Larsen 90.12.13 63 Sialidosis 91.4.12 64 Alstrom Syndrome Alstrom 91.8.6 65 Chronic primary granulomatous disease 91.8.6 Persistent hyperinsulinemic 66 91.8.6 hypoglycemia of infancy (PHHI) 67 Familial hyperchylomicronemia 91.8.6 68 W A G R syndrome (Wilms tumor-aniridia-genitourinary W A G R 91.8.6 Anomalies-mental Retardation) 69 Ectodermal Dysplasias 91.11.13 70 Beckwith Wiedemann syndrome Beckwith Wiedemann 91.11.13 71 Congenital insensitivity to pain with anhidrosis (CIPA) 91.11.13 72 Wolfram syndromedidmoad Wolfram 91.11.13 73 Adrenoleukodystrophy 91.11.13 74 McCune Albright syndrome McCune Albright 91.11.13 75 Crouzon syndrome Crouzon 91.11.13 76 Thrombasthenia 91.11.13 77 Schwartz Jampel syndrome Schwartz Jampel 91.11.13 78 Fraser syndrome Fraser 91.11.13 79 Mucolipidosis 92.6.13 80 Ehlers Danlos syndrome IV 92.6.13 81 Myotonic dystrophy 92.6.13 82 Congenital Hyper IgE syndrome E 92.6.13 83 Tyrosinemial I IIIII 92.6.13 84 Hyperlysinemia 92.6.13 85 Histidinemia 92.6.13 A-4
86 3-Methylcrotony-CoA carboxylase deficiency 酶 A 92.6.13 87 Multiple carboxylase deficiency 酶 92.6.13 88 89 90 Split-hand/ Split-foot malformation SHFM Metachromatic Leukodystrophy MLD Campomelic dysplasia with autosomal sex reversal 92.6.13 MLD 92.6.13 92.6.13 91 Osteopetrosis 92.6.13 92 Carbohydrate-deficiency glycoprotein syndrome 92.6.13 93 Trimethylaminuria 92.6.13 94 Congenital generalized lipodystrophy 92.6.13 A-5
() () () (RS)-2,3-bis (sulphanyl) propane-1-sulfonic acid (DMPS) sodium salt, Monohydrate (RS)-2,3-Dimercapto-1-propane sulfonic acid (DMPS), sodium salt, Monohydrate [Meso-2,3- dimercaptosuccinic acid, DMSA] Injection Capsule Capsule 100 mg 2001.8.3 2001.8.3 1999.6.17 2001/12/10 000003 2001/12/10 000002 () Agalsidase-alpha Injection alpha-galactosidase A deficiency (Fabry disease) 2002.3.25 () Agalsidase-beta Injection alpha-galactosidase A deficiency (Fabry disease) 2002.3.25 () Albendazole Tablet 200 mg 1999.12.9 (1) () Aldesleukin [RecombinantInterleukin-2] Injection 1.2mg/vial ( Metastatic renal cell carcinoma) 2000.8.1 (2) (Metastatic melanoma) 2002.8.8 ( 2001/03/30 ( 000650 ) A-6
() () Amphotericin B Lipid Complex Anagrelide Injection 5 mg/ml 2001.5.21 1999.6.17 ( Capsule 0.5 mg; 1.0 mg () Antivenin of Vipera Russelli Injection 2002.11.14 ( ) Arginine ( ) Arsenic Trioxide ( ) Artemisinin ( ) Atovaquone-proguanil ( ) Benznidazole ( ) Betaine ( ) Bosentan Injection 10 gm/100ml Injection 1mg/ml,10ml/vial 1999.12.9 2002/2/5 000005 Tablet 100 mg 1999.12.9 Tablet 250 mg+100 mg 1999.12.9 Tablet 100 mg 1999.12.9 Powder for Reconstitution 1999.6.17 1 gm/scoopful 62.5 and 125 mg tablet 1. 2. 2003.11.18 A-7
( ) Citrulline ( ) Cladribine ( ) Cycloserine ( ) Cysteamine Bitartrate ( ) Dantrolene ( ) Deferiprone (Kelfer) ( ) Diazoxide citrulline 2001/12/11 Tablet, 600 mg 2000.8. 1 oral solution,1 g/10 ml 000001 Injection 1 mg/ml Capsule 250 mg citrulline 2001/12/11 2000.8. 1 000001 1999.12.9 Capsule nephropathic cystinosis EQ 50 mg, 150 mg Base 1999.12.9 (Injection) 20 mg/vial Capsule 250 mg500 mg 1999.12.9 (Thalassemia major), Deferrioxamine ; 2001.5.21 (:, ),Deferrioxamine persistent hyperinsulinemic Capsule, Suspension hypoglycemia of infancy 50 mg; 50 mg/ml (PHHI) 1999/12/9(2 003/11/18 ) 2002/2/25 (250 mg) 000004 2002/2/25 (500 mg) 000005 A-8
( ) Diloxanide Furoate Tablet 500 mg 1999.12.9 ( ) Dimercaprol Injection 10% 1999.12.9 ( ) Eflornithine HCL ( ) Epoprostenol ( ) Gabapentin ( ) Glatiramer acetate Injection 200 mg/vial Injection 0.5 mg base/vial; 1.5 mg base/vial 1999.12.9 1999/6/17(2002/ 11/14 ) Capsule; Tablet (Amyotrophic Laterol 1999.12.9 600 mg, 800 mg Sclerosis ALS) Injection 20 mg/vial (Multiple 1999.12.9 Sclerosis) ( ) Hemin Injection 1999.6.17 ( ) Iloprost nebuliser solution 2002.8.8 ( ) Imiglucerase ( ) Interferon-Beta-1a ( ) Interferon-Beta-1b A-9 Injection 200 units/vial (Type I) 1999.6.17 Injection (Multiple 3MIU6MIU 1999.12.9 Sclerosis) 12MIU/vial Injection 0.3 mg/vial (Multiple 1999.6.17 Sclerosis) 2001.6.6 000001 2001.11.26 000002 2002.8.8 2000/04/11 ( 000601 ( )
( ) Interferon-Gamma 1b ( ) Iodoquinol Injection (Chronic 1999.12.9 100 mcg/0.5mlgranulomatous Disease) Tablet 210mg; 650 mg ( ) Ivermectin Tablet 6 mg 1999.12.9 ( ) L-5-hydroxytryptophan (5-HTP) Capsule ( ) Lactic acid bacteria oral use ( ) Laronidase ( ) Levocarnitine ( ) LiposomalAmphotericin B ( ) Meglumine Antimoniate 100 units/ml solution for infusion BH4 ( ) Tetrahydrobiopterin (BH4) deficiency PKU 2001.8.3 chronic pouchitis disease 2002.8.8 2003.11.18 Injection; Oral Solution; Tablet [ 200 mg/ml, 1 Carnitine 1999.6.17 gm/10ml, 330 mg, 1gm] Injection 50 mg/ vial Injection (85 mg/ml) 2001/5/21 2001.1.18 ( ) 1999.12.9 2002/05/03 000006 (i) (tab) (t) A-10
( ) Melarsoprol ( ) Metrifonate Tablet (3.6% solution propylene glycol) Tablet 30 mg 1999.12.9 ( )( )1999.12.9 ( ) Mitotane Tablet 500 mg 1999.12.9 ( ) Modafinil 200 mg ( ) Nifurtimox Tablet 30 mg;120mg; 250mg Narcolepsy <TD2001.5.21< td> 1999.12.9 ( ) Nitric Oxide Inhaler 1999.6.17 ( ) Oxamniquine Tablet 250 mg 1999.12.9 ( ) Paromomycin Sulfate Pentamidine ( ) Isethionate Capsule 250 mg [Injection] [300 mg/vial] 1999.12.9 (Pneumocystis carinii pneumonia; PCP) 1999.12.9 2002.8.8 ( 2000.4.11 021444 ( ) Phenytoin Capsule 30 mg ( ) 1999.12.9 ( ) Phosphate solution Solution [X-linked hypophospatemic Rickets] 2001.8.3 A-11
potassium acid phosphate + ( ) sodium acid phosphate,anhydrous Tablet [X-linked hypophospatemic Rickets] 2002.11.14 ( ) Primaquine-Phosphate [Tablet[26.3 mg] 1999.12.9 ( ) Proguanil Tablet 100 mg 1999.12.9 Pyrimethamine + ( ) Sulfadiazine Pyrimethamine + ( ) Sulfadoxine Pyrimethamine-sulfadoxinemefloquine ( ) ( ) Risedronate ( ) Sacrosidase ( ) Sod. Benzoate Sod. Benzoate & Sod. ( ) Phenylbutyrate Tablet 25mg+2gm 1999.12.9 Tablet 25 mg+500 mg 1999.12.9 Tablet 25 mg;250 mg; 500 mg Tablet 30 mg Oral Solution 900 IU/ml Capsule [250 mg] [Oral Solution; Injection ] [ 100mg/ml+100mg/ml, 100ml/vial ] 1999.12.9 Primary Paget disease 2001.3.22 PKU with congenital sucrase-isomaltase deficiency Non-ketotic hyperglycinemia 1999.12.9 1999.6.17 1999.6.17 2003.8. 000008 2001/3/21 000001 A-12
Sodium ( ) Phenylbutyrate [Powder; Tablet] [3 gm /teaspoonful; 500 mg] carbamylphosphate synthetase (CPS), Ornithine transcarbamylase 1999.6.17 (OTC)Argininosuccinic synthetase (AS) ( ) Sodium Stibogluconat Injection 100 mg/ml, 100 ml/bot ( ) 1999.12.9 ( ) Suramin Tetrahydro- ( ) Biopterin(BH4) Injection 1 g/vial 1999.12.9 Tablet Terahydrobiopterin 10 and 50 mg ( ) Thalidomide Capsule 50 mg leprosum 1999.12.9 ( ) Thymosin alfa 1 injection DiGeorge Syndrome 2002.8.8 Thyrotropin alfa ( ) Injection TPN for PKU with congenital ( ) sucrase-somaltase Injection deficiency [Injection] [1.1mg/ml] 1999.6.17 TPN For PKU with congenital sucrase-isomaltase 1999.12. deficiency A-13 2002/10/16 000006
TPN for PKU with congenital ( ) sucrase-somaltase Injection deficiency TPN For PKU with congenital sucrase-isomaltase 1999.12.9 deficiency ( ) treprostinil sodium Injection 1.0, 2.5, 5.0, 10.0 mg/ml 2002.11.14 ( ) Tretinoin soft gelatin capsules 10 mg 2003.11.18 ( ) Trientine Hcl [Capsule] [250 mg] (Wilson Disease) 1999.6.17 ( ) Zinc Acetate [Capsule] [25-50 mg] (Wilson Disease) 2001.12.4 A-14
/ 5-HTP 100MG 3925 11 CCP Aldurazyme 500U/2.9m g/5ml 319 1 alpha-glucosida 50 mg/vial 170 2 Genzyme se Anagrelide (Agrylin) Arsenic Trioxide inj (Asadin) 0.5mg / cap 1mg/ml 10ml/vial Beta-galactosida se A 35mg/vial (Fabrazyme) 1710 3 1640 3 2638 3 1556 2 910 1 9719 14 4418 10 Mallinckro dt(shire) 1800 4 112 3 18 1 Asadin 93 2 Tung Yang 26 2 A-15
Beta-galactosida se A 35mg/vial (Fabrazyme) / 48 3 54 3 Fabry s Disease alpha-galacto sidase A deficiency (Fabry disease) 68 3 Genzyme Betaine 1776 1 Twin Carnitene for inj 1G/AMP 177 140 360 420 1230 180 800 39 95 3 Carnitine tab 1g 1tab tid-qid 3 1 0.25tab tid 259 1 Short chainacyl-co A, dehydorgenas e deficiency Glutaric aciduria type I 1tab bid-qid 168 1 3MMC deficiency 0.5-1.5qd-bi d 025-1tab qd-tid 0.1-0.25tab tid-qid 455 1 3MMC deficiency 200 1 3MMC deficiency 152 1 propionic acidemia, 1tab qd 84 1 Metabolic CNS disease A-16
/ 0.25tab qd 17.5 1 Amino acid disorder Carnitine tab 1g Citrulline solin Cystagon Dantrolene (Dantrolen) 0.33tab tid 360 1 Fatty Acid Oxidation Defect 0.33tab bid 222 1 carnitine deficiency 1tab qid 1232 1 MELAS 0.5tab qd 73.5 1 1g/10ml 0.2pkg qd 150mg /cap 4cap qid 20mg/vial 22.4 1 Glutaric aciduria type I Ornithine transcarbamy lase deficiency 1120 1 intermediate cystinosis Procter & 10 1 Gamble 2 1 8 1 Deferiprone (Kelfer) 500mg / cap 810 1, Deferrioxami ne ; (:,... ), Deferrioxami ne A-17
/ Deferiprone (Kelfer) 500mg / cap 112 1 13661 20 705 9 Diazoxide oral susp. (Proglycem) 50mg/ml 30ml / btl 1. edema, Lasix PHHI 2. (persistent Hirsutism: face, hyperinsuline 9 1 neck, back and mic extremities. hypoglycemi a of infancy) Nesidiodlasto 109 1 sis protein 177 1 induced hyperinsuline mia 4 1 Flolan 500mcg/vial 2383 4 Heme arginate (Normosang) Iloprost inj (Ilomedin-20) 250mg/amp 25mg/ml 10ml/amp 20mcg/1ml/ amp Glaxo Wellcome 20 3 32 4 Leiras medica 4 1 500 120 12 15 A-18
Iloprost inj (Ilomedin-20) Imiglucerase (Cerezyme) / 20mcg/1ml/ amp 200u/vial 4690 6 Schering AG 133 1 444 1 96 1 Gaucher s Disease 225 1 72 1 Gaucher disease 2284 6 Imukin for inj 100mcg/vial 295 2 Interferon beta-1a (Rebif) 22mcg/ 44MCG Genzyme Therapeuti cs Boehringer Ingelheim 306 3 167 2 250 8 167 2 Vetter Pharm(Ser ono) 213 4 2940 27 Indus. Farma. Serono 10 1 Multiple sclerosis 273 4 Multiple Sclerosis Joulie solution 500ml/btl 1496 223 NTUH A-19
/ 700mg/tab 240 1 X-linked Hypophosphat emic rickets 250mg 1tab qid 1316 3 Familial hypophatemic rickets X-linked hypophosphate mic rickets K-Phos No.2 Low 250mg 2tab Phosphorus 378 1 tid Rickets and Osteomalacia 250mg 1.5-2tab 882 1 X-linked hypophosphate tid-qid mic rickets X-linked 250mg 1097 3 hypophosphate 1-2tab qid mic rickets 100 1 Levocarnitine 1gm/tab 662 4 Carnitine 430 1 Bristol-My ers Lysodren 868 1 50mg/tab (Mitotane) 1 2870 3 Modafinil 200 mg / tab 1029 6 Narcolepsy A-20
Phenylbutyrate (Buphenyl) / 500mg 1-2.5cap q12h-q6h 500mg 1-1.5cap qd-bid 500mg 1captid-bid 500mg 1cap q6h-bid 500mg 0.5cap tid 500mg/tab 1610 1 OTC deficiency 566 1 678 1 Urea cycle defect Argininosuc cinic acidemia 4 1 Propionic acidemia 170 1 citrullinemi a, 4664 4 32304 8 Ucyclyd Phosphate solution 500cc/B 91 4 Potassium acid phoasphate+sod ium acid Tablet 3608 3 phosphate anhydrous Proglycem 30ML 99 5 Schering Plough Replagal 3.5MG/3.5 Chesapeake 72 1 ML/VIAL Biologica Non-ketotic 2160 1 hyperglycin Sodium 250mg / cap emia Benzoate UBI 11165 2 (Merck) Stimol oral solution 1G/10ML 546 3 Biocodex A-21
Tetrahydrobiopte 10MG rin(bh4) Thado (Thalidomide) / 50mg/cap Thyrogen Thyrotropin alfa,2vials/set 1mg/vial 600 1 37563 34 Schircks Lab.,, 266 2 9258 26 Tung-Yang 1702 11 MMHCC 3147 18 6360 42 2 Skin rash with itching1 1 1 1 Erythematous papule with itching1 1.1mg/inj 6 3 6 4 Genzyme Nausea and vomiting 22 9 22 12 Tracleer 62.5mg/tab 1904 6 Patheon Tretinoin (Vesanoid) 4 2 2 10mg/cap 2402 9 ATRA Retinoid syndrome1 APL (skinliver ) Trientine 250mg /cap 846 2 Wilson diseasse A-22
/ VSL#3 210 1 Zinc acetate (Galzin) Pharmaceu ticals 1617 5 Wilson 50mg/cap diseasse 4512 5 Teva 25mg/cap 3789 6 Teva A-23
9091 92 5-HTP (Oxitriptan) agalsidase beta (Fabrazyme) Agrylin (Anagrelide) Aldesleukin [Recombinant Interleukin-2] (Proleukin) Aldurazyme (Laronidase) alfa-galactosidase A (Replagal) Alpha-glucosidase Amphotericin B-liposome Arsenic trioxide (Asadin) Betain 92 91 92 90 / 100mg/cap 92 3925 79.63% 1621.49% 91 2185 50 cap/ 90 228 92 170-28.87% 35mg/vial 91 239 90 0 92 20321-40.02% -43.06% 0.5mg cap 91 33877 90 35687 92 0-100.00% -100.00% 18MIU/vial, 91 703 1.2mg/vial 90 824 92 319 91 0 90 0 92 72 200.00% 3.5mg/3.5ml 91 24 /vial 90 0 92 107 2575.00% 50mg/vial 91 4 90 0 92 0-100.00% 50mg/vial 91 19 90 0 92 223 42.04% -53.54% 10mg/10ml/ 91 157 vial 90 480 92 1776 0.00% 91 1776 90 0 A-24
BH4 (Tetrahydrobiopterin) Buphenyl (sodium phenylbutyrate) Buphenyl (sodium phenylbutyrate) Carnitene for inj Cerezyme (imiglucerase) citrulline malate Creatine Cystadane (Betaine anhydrous) cysteamine bitartrate (Cystagon) Dantrolene sodium Deferiprone (Kelfer) 92 91 92 90 / 10mg/tab 500mg tab 250mg tab 1g/amp 200u/vial 1gm/10ml 92 37563-52.53% 70.74% 91 79136 90 22000 92 39996-22.97% 91 51922 90 0 92 2920 91 0 90 0 92 12548 418166.67% -31.05% 91 3 90 18198 92 2677 1.13% -36.31% 91 2647 90 4203 92 22.4-82.22% 91 126 90 0 92 20 1200mg/cap 91 0, 1200mg/ 90 0 180g/vial, 180g/bottle 150mg/cap 20mg/vial 500mg/cap 92 180 91 0 90 0 92 1120-52.54% 91 2360 90 0 92 18-25.00% -84.35% 91 24 90 115 92 14583-55.67% 121.36% 91 32898 90 6588 A-25
Diazoxide (proglycem) 50mg/ml, 30ml/btl Flolan (Epoprostenol) Glycine Ilomedin-20 (Iloprost, prostacyclin PGI2 Imukin (Interferon gamma 1b) Imukin (Interferon gamma 1b) Interferon Beta 1b (Betaferon) Interferon-Beta 1a (Rebif) Interferon-Beta 1a (Rebif) Kphos NO.2 tablet(potassium acid phosphate 350 mg+sodium acid phosphate anhydrous 700mg) 92 91 92 90 / 92 295-13.24% 56.08% 91 340 90 189 92 2383-10.21% 46.47% 500mcg/vial 91 2654 100mcg/vial 90 1627 500mg/tab 20mcg/ml/a mp 100mcg/0.5 ml/vial 0.1mg/vial 0.3mg/vial 22mcg 5MIU/vial 44mcg 12MIU/vial 100tab/ 92 0-100.00% 91 6276 90 0 92 4891 1330.12% 91 342 90 0 92 295-52.27% 91 0 90 618 92 0-100.00% 91 133 90 0 92 0-100.00% -100.00% 91 421 90 879 92 890-85.69% 91 6220 90 0 92 3436 127.25% 91 1512 90 0 92 340 91 0 90 0 A-26
Lactic acid bacteria L-carnitine Levocarnitin oral solution Lysodren (Mitotane) Normosang (Heme arginate) Normosang (Heme arginate) Phenytoin Phosphate solution Provigil (Modafinil) Sacrosidase; oral solution Sodium Benzoate 92 91 92 90 / 92 1200 91 0 90 0 92 662-97.59% 1gm/tab 91 27467 90 0 92 0-100.00% -100.00% 1gm/10ml/b 91 5456 ot 90 5428 92 4168 66.45% 9.11% 500mg tab 91 2504 90 3820 92 52-33.33% 250mg/amp 91 78 90 0 92 20 25mg/ml, 91 0 10ml/amp 90 0 92 0-100.00% -100.00% 30mg/cap 91 5779 90 15000 92 91-92.61% -99.86% 91 1231 90 62820 92 1029-39.11% 200mg tab 91 1690 90 0 92 0-100.00% -100.00% 900IU/ml 91 24 90 62033 92 13325 46.08% 44.35% 250mg/cap 91 9122 90 9231 A-27
THADO (thalidomide) 50mg/cap Thyrogen (thyrotropin alfa) Tracleer (Bosentan) Tracleer (Bosentan) Trientine (Syprine) Zinc Acetate (Galzin) Zinc Acetate (Galzin) Zinc Acetate (Galzin) 92 91 92 90 / 1.1mg/vial, 2vials/set 62.5mg/tab, 60tab/ 125mg/tab 250mg/cap 25mg/cap 250cap/ 50mg/cap 92 20733-30.10% -40.14% 91 29659 90 34638 92 50 127.27% 35.14% 91 22 90 37 92 1904 91 0 90 0 92 24 91 0 90 0 92 846 28.57% 11985.71% 91 658 90 7 92 3789-10.45% 91 4231 90 0 92 12 91 0 90 0 92 6129 91 0 90 0 A-28
1 PK AID-4 Fructose Modjul Calogen Phlexy-Vits ( 92.12.05) SUCRAID 2 I-Valex-2 3 Glutarex-2 TYPE2 A-29 4 Low Met Product 5 MSUD powder 6 Lofenalac 7 Phenyl-free 8 OS1 (Milupa) 9 UCD1 10 LEU1 (Milupa) 11 Hominex-2 12 Prosobee 13 Glutares-1 TYPE1 14 Ketonex-1 15 Provimin TYPE2 Medium Chain Triglyceride Portagen Powder 16 Alfare Generaid Plus 17 Xlys low try abalog TYPE1 18 SHS(Xmet, Cys Maxamaid) 19 Product 80056 20 Aaginine 21 OS1 OS2 22 UCD1 UCD2
PKU1 1 23 Phenex-1 Pheny1ketonuria Phenylalanine Free PKU2 24 PKU3 Phenex-2 Low Met Product XMET Analog1 25 XMET Maxamaid1 Xmet Xcys Analog1 Hominex-11 1 Pheny1ketonuria Hypermethionemia S-20 MSUD11 MSUD21 26 MSUD Analog1 MSUD Maxamaid1 Ketonex-21 OS11 Maple Syrup Urine Disease OS21 XMTVI Analog1 27 Methylmalonic AciduriaPropionic XMTVI Maxamaid1 Acidemia) Propimex-11 Propimex-21 LEU11 LEU21 28 XLeu Analog1 3-Hydroxy-3-methyl-glutaric acidemia Xleu Maxamaid1 UCD11 UCD21 29 Cyclinex-11 Cyclinex-21 Urea Cycle Disorder A-30
TYR11 TYR21 XPHEN TYR Analog1 A-31 XPXT MAXAMAID UNFLAV(1-8 ) 30 XPHEN TYR MAXAMUM8 Hereditary Tyrosinermia XPTM TYROSIDOM Tyromex-1 Tyromex-2 HOM11 HOM21 HOM11 HOM21 31 XMET Analog1 XMET Maxamaid1 Hominex-11 Hominex-21 Homocystinuria LYS11 32 LYS21 Organic Acidemia-Hyperlysinemia GA11, 33 GA21 Glutaric Acidurua, Type1 XlysLowTyrMaxamaid1 34 Glutarex-2, Glutaric Acidurua, Type2 35 1-Valex-11 Isovaleric Acidemia Energivt 36 Pro-Phree Amino Acid Metabolic Disorder Leucine lsoleucine Valine 37 Citrulline Glycine Esential Amino Acid Glutamic Acid Amino Acid Metabolic Disorder
38 Lorenenzo s oil 39 Generaid Plus Adrenal Leukodystrophy Inborn errers ofbile acid synthesis Neocate -- 40 Neocate Advance Tricho-hepato-enteric syndrome A-32
58 1 X000002155 21 2 X000003110 ( ) Ucephan Oral Solution 100ml/bot Proglycem 50mg/ml 30ml/bot ( 92.11.10) 10%Sod. Benzoate+10%Sod. Phenylacetate Diazoxide 50mg/ml,30ml/bot. 86.04.01 385.00 / 90.01.01 403.00 / (Nesidioblastosis) 41 3 X000004100 Lysodren Tab Mitotane 500mg 86.06.17 37.15 / Sodium Phenylbutyrate 59 4 X000009100 Buphenyl Tab 500mg 87.04.01 178.00 / 500mg 19 5 X000014238 Dantrolene 20mg IV Dantrolene 20mg 48 6 X000015100 Dilantin 30mg Cap Phenytoin 30mg 1. ( Procter & 87.06.17 1260.00 Gamble ) 2. 91.04.25 2600.00 / 87.04.29 1.82 ( ) / A-33
30 7 X000016212 Betaferon Inj 0.3mg/2ml/ vial 36 8 X000018100 Cartnitene 1gm Tab 29 9 X000019263 Cerezyme Inj 31 10 X000022216 Rebif Inj 3MIU 31 11 X000022223 Rebif Inj 6MIU 65 12 X0000262D2 Thyrogen Inj 14 13 X000027100 Betaine HCL withpepsin Cap Interferon B-1b 0.3mg/vial Levocanitine chew. Tab. 1gm Imiglucerase 200Unit/vial Interferon beta-1a INJ 3MIU Interferon beta-1a INJ 6MIU Thyrotrophin alfa 1.1mg Betaine HCL 648mg with Pepsin NF(1:10000) 130mg A-34 87.04.01 2100.00 92.01.01 0.00 87.11.24 70.00 40508.0 87.10.22 0 89.07.01 1544.00 91.07.01 0.00 89.04.01 3115.00 91.07.01 0.00 19471.0 88.12.01 0 1. / 2. (Mutiple Sclerosis) 91.08.08. / Carnitine TYPE 1 / (Gaucher's disease) / (Mutiple Sclerosis) / (Mutiple Sclerosis) / 89.03.01 22.80 /
56 14 X000028156 Sucraid Oral Solution 25 15 X000029277 Flolan Inj 32 16 X000032255 Imukin Inj 67 17 X000033100 57 18 X000034100 Syprine(Trientine HCl 250mg/Cap.) Sacrosidase PKU eith congenital 8500IU/ml,118ml/ 90.04.01 17850.00 sucrase-isomaltase bot deficiency Epoprostenol 500mcg/vial 89.03.01 650.00 Interferon gamma-1b 100mcg 89.05.01 4325.00 (3MIU)/0.5ml /vial Trientine HCl 250mg Sodium Benzoate Cap. Sodium Benzoate 250mg 250mg ( ) 18 19 X000037100 Cystagon Cap 150mg Cysteamine Bitartrate 150mg 89.06.01 91.09.25 89.08.01 91.07.01 31.80 37.80 20.00 0.00 / / (Chronic / Granulomatous Disease) / (Wilson Disease) Non-Ketotic hyperglycinemia 90.01.01 95.00 Nephropathic Cystinosis 8 20 X000039100 Anagrelide 0.5mg Cap Anagrelide 0.5mg 89.10.01 173.00 63 21 X000040100 Tetrahydro-Biopterin (BH4) 10mg Cap Tetrahydro-Biopter in (BH4) 10mg / / / 89.12.01 58.00 Tetrahydrobiopterin / 17 22 X000043100 Cycloserine 250mg cap Cycloserine 250mg / 90.04.01 46.90 A-35
20 23 X000045100 Kelfer Cap. 500mg 36 24 X000047129 68 25 X000049100 68 26 X000050100 9 27 X000051243 15 28 X000052129 Levocarnitin Oral Solution Zinc Acetate 25mg/cap Zinc Acetate 50mg/cap L-Arginine HCl Inj 30ml/vial Stimol (Citrulline 1gm/10ml/sachet) Deferiprone- L1 500mg Carnitin-Levo 1gm/10ml/bot Zinc Acetate 25mg Zinc Acetate 50mg L-Arginine HCl Inj. 250mg/ml Citrulline 1gm/10ml 90.07.01 74.59 Deferioxamine ; (, / ), Deferioxamine Thalassemia major 90.08.01 146.00 Carnitine / 90.12.18 50.75 (Wilson Disease) / 90.12.18 92.09 (Wilson Disease) / 90.07.01 612.56 90.07.01 92.01.01 39.47 0.00 Citrulline ( V000001129) A-36
28 29 X000053229 27 30 X000055238 Normosang inj (Human Hemin 25mg/ml 10ml/amp) Copaxone Inj 20mg Heme Arginate 25mg/ml 90.12.19 27593.00 10ml/amp / Glatiramer acetate 20mg 91.01.16 833.75 / (Mutiple Sclerosis) 42 31 X000056100 Provigil Modafinil 200mg 91.04.01 167.71 31 32 Y0000022E3 31 11 Y0000012A K 57 18 W000001100 6 33 X000058296 REBIF INJ 44MCG REBIF INJ 22MCG Sodium Benzoate Cap. 250mg Fabrazyme 35mg Inj. Interferon beta-1a INJ 44MCG(=12MIU) Interferon beta-1a INJ 22MCG(=6MIU) Sodium Benzoate 250mg Agalsidase beta 35mg 5 34 X000059217 Zadaxin Inj 1.6mg Replagal 3.5mg Inj 91.04.01 3127.00 91.07.01 2545.00 91.05.01 30.00 (Mutiple Sclerosis) (Mutiple Sclerosis) (Non-Ketotic / hyperglycinemia) alpha-galactosidase 138400.0 91.04.09 A deficiency / 0 (Fabrazyme disease) alpha-galactosidase 91.06.30 78327.00 A deficiency (Fabrazyme disease) A-37
10 35 W000005229 Asadin Inj. 1mg/ml 10ml Arsenic Trioxide 1mg/ml 91.08.01 1171.00 15 28 V000001129 Stimol oral Solution Citrulline malate 1g/10ml 1g/10ml 67 36 X000060292 Zadaxin Inj. Thymosin alpha-1 1.6mg 36 37 X000061209 Carnitene inj. 1gm Canitine-Levo 1gm (RS)-2,3Bis(Sulphanyl )Propane-1-Sulphonic 2 38 V000003221 Dimaval Inj. Solution acid, Sodium salt-(monohydrate) 50mg Sodium-2,3-Dimercapt 1 39 V000002100 Dimaval Capsules o-1-propane Sulfonate (Monohydrate) 100mg 40 X000062209 Ilomedium-20 inj Iloprost 20mcg/ml 91.09.01 39.40 Citrulline (Lab. Biocodex) 91.08.01 5000.00 DiGeorge syn. 91.09.20 543.00 Carnitine /Sigma-tau 91.11.01 1325.00 /Sigma-tau 91.11.01 266.06 91.08.08 1550.00 ( /Heinz Haupt ) Chemischpharmazeutische Fabrik Gmbh & Co. KG / A-38
41 X000063100 K-Phos No.2(Beach Pharmaceuticals) Potassium acid phosphate 305mg Sodium acid phosphate anhydrous 700mg 42 X000064230 Virazole I.V. 12ml Ribavirin 100mg/ml 18 V000006100 Carnitene 1g chewable tablets Canitine-Levo (inner salt) 1gm 43 A038948100 5-HTP Oxitriptin 100mg 44 X000065172 27 X000067162 VSL#3 450 billion bacteria/packet Cystadane powder for oral sol n 1gm/scoopful (Betaine anhydrous) Lactic acid bacteria 450 billion bacteria Betaine anhydrous 180gm 91.11.14 6.63 / 10000.0 SARS 92.04.01 /ICN 0 Pharmaceuticals,Inc. 92.08.01 132.00 86.02.01 89.04.01 92.03.01 30.00 27.74 27.70 92.10.01 150.00 92.10.01 32067.0 0 Carnitine /Sigma-tau BH4 Chronic pouchitis disease /VSL Pharmaceuticals, Inc. /Orphan Medical, Inc. A-39
ICD-9-CM ( 92.12.25) ICD-9-CM 01 Urea cycle disorders 270.6 01 Citrullinemia 270.6 02 Amino acid metabolic disorders ( Aminoacidopathies) 270.9 01 Homocystinuria 270.4 1 Hypermethioninemia 270.4 02 Cystinosis 270.0 03 Nonketotic hyperglycinemia 270.7 04 Phenylketonuria 270.1 05 Tetrahydrobiopterin deficiency 270.1 06 Hereditary tyrosinemia 270.2 07 Maple syrup urine disease 270.3 03 Hereditary coproporphyria 277.1 04 Multiple sclerosis 340 05 Gaucher's disease 272.7 06 Wilson's disease 275.1 07 Nesidioblastosis 211.7 08 Amyotrophic lateral sclerosis (ALS) 335.20 09 Organic acidemias 270.9 01 Isovaleric acidemia 270.3 02 Glutaric aciduria type I, II 270.9 03 Propionic acidemia 270.3 04 Methylmalonic acidemia 270.3 05 3-Hydroxy-3-methyl-glutaric acidemia 3- -3-270.9 10 Galactosemia 271.1 11 Fatty acid oxidation defect 272.9 01 Carnitine deficiency syndrome, primary 272.9 A-40
ICD-9-CM 12 Mitochondrial defect 277.9 01 Kearns-Sayre syndrome Kearns-Sayre 277.9 02 Leigh disease Leigh 330.8 03 MELAS MELAS 758.89 04 Mitochondrial Neurogastrointestinal MNGIE 277.9 Encephalopathy Syndrome 13 Aarskog-Scott syndrome Aarskog-Scott 759.89 14 Achondroplasia 756.4 15 Angelman syndrome Angelman 759.89 16 Ataxia telangiectasia 334.8 17 Cockayne syndrome Cockayne 759.89 18 Duchenne muscular dystrophy 359.1 19 Glycogen storage disease 271.0 20 GM1/GM2 gangliosidosis GM1/GM2 330.1 21 Hereditary epidermolysis bullosa 757.39 22 23 Huntington disease Huntington's chorea) Hutchinson Gilford progeria syndrome 24 Ichthyosis, lamellar recessive 333.4 259.8 757.1 25 Kenny-Caffey syndrome Kenny-Caffey 759.89 26 Lesch-Nyhan syndrome Lesch-Nyhan 277.2 27 Lowe syndrome Lowe 270.8 28 Mucopolysaccharidoses 277.5 29 Osteogenesis imperfecta 756.51 30 Pseudohypoparathyroidism 275.49 31 Rett syndrome 330.8 32 Spinal muscular atrophy 335.10 33 Spinocerebellar ataxia 334.3 34 Sulfite oxidase deficiency? 270.0 35 Thalassemia major 282.4 36 Tuberous sclerosis 759.5 37 Waardenburg syndrome 270.2 A-41
A-42 ICD-9-CM 38 X-linked hypophosphatemic rickets 275.3 39 Zellweger syndrome Zellweger 277.9 40 Progressive intrahepatic cholestasispfic 751.69 41 Inborn errors of bile acid synthesis 277.9 42 Primary Paget disease 731.0 01 02 03 Nitroacetylglutamate synthetase deficiency NAG synthetase deficiency Omithine transcarbamylase deficiencyy? 270.6?270.6 43 Apert syndrome 755.55 44 Cleidocranial dysplasia 755.59 45 DiGeorge s syndrome DiGeorge s 279.11 46 Homozygous familial hypercholesterolemia 272.0 47 Fucosidosis 271.8 48 PAH type PKU combine with Sucrase-isomaltase deficiency 酶 酶 271.3+270.1 49 Nemaline Rod Myopathy Nemaline 359.0 50 Fibrodysplasia Ossificans Progressiva 728.11 51 Menkes syndrome Menkes 759.89 52 Fabry disease Fabry 272.7 53 Prader-Willi syndrome Prader-Willi 759.81 54 Niemann-Pick disease Niemann-Pick 272.7 55 Tricho-hepato-enteric syndrome -- 759.7 56 Collodion baby 757.1 57 Harlequin ichthyosis 757.1 58 Bullous Congenital ichthyosiform erythodermaepidermolytic hyperkeratosis 757.1 59 Laron syndromelaron Dwarfism Laron 259.4 60 Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz 759.89
ICD-9-CM 61 Bardet-Biedl syndrome Bardet-Biedl 759.89 62 Larsen syndrome Larsen - 755.8 63 Sialidosis 272.7 64 Alstrom Syndrome Alstrom 759.2 65 66 Chronic primary granulomatous disease 288.1 Persistent hyperinsulinemic 251.1 hypoglycemia of infancyphhi 67 Familial hyperchylomicronemia 272.3 68 W A G R syndromewilms tumor-aniridia-genitourinary W A G R 759.89 Anomalies-mental Retardation 69 Ectodermal Dysplasias 757.31 70 Beckwith Wiedemann syndrome Beckwith Wiedemann 759.89 71 Congenital insensitivity to pain with anhidrosiscipa 705.0 72 Wolfram syndromedidmoad Wolfram 277.9 73 Adrenoleukodystrophy 272.7 74 McCune Albright syndrome McCune Albright 756.59 75 Crouzon syndrome Crouzon 756.0 76 Thrombasthenia 287.1 77 Schwartz Jampel syndrome Schwartz Jampel 756.89 78 Fraser syndrome Fraser 759.89 79 Mucolipidosis 272.7 80 Ehlers Danlos syndrome IV 756.83 81 Myotonic dystrophy 359.2 82 Congenital Hyper IgE syndrome E 279.9 83 Tyrosinemial I IIIII 270.2 84 Hyperlysinemia 270.7 85 Histidinemia 270.5 86 3-Methylcrotony-CoA carboxylase deficiency 酶 A 270.9 87 Multiple carboxylase deficiency 酶 270.9 A-43
88 89 90 Split-hand/ Split-foot malformation SHFM Metachromatic Leukodystrophy MLD Campomelic dysplasia with autosomal sex reversal ICD-9-CM Hand755.58 Foot755.67 MLD 330.0 758.89 91 Osteopetrosis 756.52 92 Carbohydrate-deficiency glycoprotein syndrome 277.9 93 Trimethylaminuria 277.8 94 Congenital generalized lipodystrophy 272.6 A-44
(* ) A-45 苷 酶 (full Crigler-Najjor syndrome 02-27082121 Ext3880 6,000(/ ) (EDTA seguence of UDP-glucuronosyl type1and 2 )1-2 transferase A1 gene) (mutrtion of multidrug Dubin-Johnsonsyndrome 02-27082121 Ext3880 6,000(/ ) (EDTA resistance protein gene )1-2 MRP2gene) G6PD G6PD G6PD 02-27082121 Ext3880 1,000(/ ) (EDTA G6PD )1-2 Urine Organic Acid Analysis (GC/MS) ( Organic Aciduria ) 02-28094661 Ext2349 2,000(/ ) Plasma/UrineAmino AcidA nalysis 02-28094661 Ext2349 2,000(/ ) MPS 02-28094661 Ext2349 (GAG) 500(/ )
(* ) 酶 酶 ( 02-28094661 Ext2349 1,000-2,000/ (/ ) ) Ur. Test Plasma CarnitineAnalysis Primary or secondary Carnitine deficiency A-46 500( 02-28094661 Ext2349 / ) 500( 02-28094661 Ext2349 / ) 2,000/ GC/MS 02-28094661 Ext2349 (/ ) αβ thalassemi 03-8565301 Ext7147 / 3,000(/ ) (DMD-BMD) 03-8565301 Ext7147 1,500
Inborn enm ScreeningUrine Capillary microscopy SclerodemaDermatomyositis AA ( CSF) urine organic acid( ) α1- 酶 α1-antitrypsin ceruloplasmin( ) A-47 (* ) 3,500/ 07-3422121 Ext5004 (/ ) 07-3422121 Ext5002 07-3422121 Ext2057 04-23592525 Ext4402 (2,000 ) 04-23592525 Ext4402 (1,800 ) 04-23592525 Ext4402 800(/ ) 04-23592525 Ext4402 800(/ ) VLCFA C22C24C26 ASSAY 04-23592525 Ext4402 2,000(/ ) (very-long-chain-fatty)( )
(* ) 10 20 carnitine 04-23592525 Ext4402 1,200(/ ) carnitine( ) Fragiles X syndrome PCR screening Genetic Epilepsy: SCN1a, SCN 1b,CHRNA4,KCNQ2, KCNQ3Very Long Chain CoA Dehydrogenase Medium Chain CoA Dehydrogenase Short Chain CoA Dehydrogenase LCHAD Primary Carnitine Deficiency(OCTN2) CARNITINE PALMITOYLTRANSFEERASE II Mitochondril DNA Mutetion screening Point mutation 3243,8344,8993,9176 Common deletion Rett syndromecdg Type I AadrenoleukodystrophyMenkes disease Maple syrup urine disease E1a,E1b,E2 04-23592525 Ext4402 A-48
(* ) Lesch-Nyhan SyndromeSoulfiete Oxidase Glycogen Storeage Disease Type 1a Androgen Receptor gene Low Density Lipoprotein Receptor Gene Alagille syndrome ORW Type II Long QT syndrome: SCN5a, Kvlqt1, Mink Townes Brocks Syndrome Osteropetrosis, autosomal recessive Denys-Drash syndrome(wt1 gene) Glutaric acduria Type 1 Spondylepiphyseal dysplasia tarda 04-23592525 Ext4402 Muscle Biopsy ( ) Electron microscope(muscle) 04-23592525 Ext5908 2,500(/ ) ( ) 04-23592525 Ext5740 5,000(/ ) A-49
( ) ( )( ) (* ) 04-23592525 Ext4402 500(/ ) 04-23592525 Ext4435 2,500(/ ) 04-23592525 Ext4435 3,000-5,000(/ ) A-50 ( ) 04-23592525 Ext4435 2,500(/ ) Mechylation PCR Southern blot FISH ANAC(Anti-neutrophil cytoplasmic antibody) Prader-Willi syndrome Angelman syndrome Fragile-X syndrome Degeorge syndrome Williams syndrome Prader-Willi syndrome Angelman syndrome Miller-Dieker syndrome Smich-Magenis yndrome Wegener s granulomatosis Microscopic polyangiitis Churg-Strauss syndrome 06-2353535 Ext3551 06-2353535 Ext3635 1,000(/ ) ( ) 06-2353535 Ext2651 500(/ )
Anti-glomerularbasement membrane AB Goodpasture syndrome (* ) ( ) 300(/ ) 06-2353535 Ext2651 ( 12066AA) A-51 X 200(/ 30 PCR ( 06-2812811 Ext2619 )1,000(/ ) ) Fragile X Syndrome, Huntington 1. Chorea, SCA, Mitochondria Disease (Deafness, MELAS, 02-23123456 Ext6702 1,500(/ ) MERRF, LHON), Kennedy s 2. Disease, GSDIa, SRY X0002 1. 24008A1 02-23123456 Ext6702 2,340(/ ) (GC-Mass) 2. X0005 1. 12075A1 02-23123456 Ext6702 2,600(/ ) 2. X0008 02-23123456 Ext6702 1,000(/ ) X0014
-Iduronidase I (MPS I) Iduronate 2-sulfatase II (MPS II) N-Acetyl-D-Glucosaminidas e IIIB (MPSIIIB) N-Acetyl-Galactosaminidase 6-sulfatase IVA (MPS IVA) -Galactosidase IVB GM1 (MPS IVB) Arylsulfase B VI (MPS VI) (* ) 02-23123456 Ext6702 2,500(/ ) X0020 02-23123456 Ext6702 8,000(/ ) X0021 02-23123456 Ext6702 2,550(/ ) X0022 02-23123456 Ext6702 6,400(/ ) X0023 02-23123456 Ext6702 2,500(/ ) X0024 02-23123456 Ext6702 2,500(/ ) X0025 Arylsulfatase A 02-23123456 Ext6702 2,500(/ ) X0027 (MLD) Glucose-6-Phosphatase Ia 02-23123456 Ext6702 4,000(/ ) X0028 (GSDIa) A-52
A-53 (* ) -Glucosidase II 02-23123456 Ext6702 3,100(/ ) (Pompe s Disease) (Pompe s Disease) X0029 -Fucosidase Fucosidosis -Glucosidase (Gaucher s Disease) Phe PKU Phenylketonuria(PKU) DHPR ( ) Pterins HPLC ( ) PKU 02-23123456 Ext6702 3,300(/ ) X0031 02-23123456 Ext6702 2,750(/ ) X0033 02-28757401 Galactose & Galactose-1-Phosphate Galactosemia Gal -1-P uridyl-transferase 02-28757401 Galactosemia Fibroblast 14C-propionate incorporation Porpionic Propionyl CoA carboxylase acidemia(pa) (PCC) 02-28757401
(* ) Fibroblast 14C-propionate incorporation Methylmalonic acidemia(mma) 02-28757401 mutase MUT α-galactosidse A Fabry s disease Fabry s Fabry s disease β-hexosaminidase A Tay-Sachs disease β-hexosaminidase B Sandhoff disease β-glucosidase Gaucher s disease ( ) Arylsulaftase A Metachromatic leukodystrophy 02-28757401 02-28757401 02-28757401 02-28757401 02-28757401 A-54
Mucopolysaccharidosis VI Arylsulaftase B (MPS VI) β-glucuronidase β-glucuronidase deficiency α- mannosidase Mannosidosis α- glucosidase Pompe s disease (* ) 02-28757401 02-28757401 02-28757401 02-28757401 A-55 Acute intermittent prophyria PBG deaminase (AIP) 02-28757401 (PA) (MMA) 02-28757401 (MSUD)MCADIsovaleric aciduria
A-56 (* ) acylcarnitines (PA) 02-28757401 (MMA)MCAD Isovaleric aciduriascad Homocystinineuria (HCU) 02-28757401 MSUDPKUTyrosinenemia 1. 07-3121100 Ext7048 3,500(/ ) 2.DiGeorge syndrome 3.Williams syndrome 07-3121100 Ext7048 (FISH) 4.Kallmanns syndrome 5,500(/ ) 5.Prader-Willi syndrome 6.Angelman syndrome Mutational analysis 07-3121100 Ext7055 ofcyp21 gen 1,500(/ ) 綉 HLA-DQA1,HLA-DQB1 genotyping Apolipoprotein Egenotyping Genotyping Lipoprotein 07-3121100 Ext7055 綉 2,000(/ ) 07-3121100 Ext7055 綉 1,000(/ )
Mutational analysis ofp53 gene(exon 5~exon 8) Mutational analysis ofk-ras gene α-thalassemia gene β-thalassemia gene bcr-abl gene PML-RAR gene PCR-STR (D3S1358,Vwa,FGA, Amelogenin,D8S1179,D21S11, D18S51,D55S818,D13S317,D7 S820) SMN gene analysis Dystrophin immunostaining 17-OHP,TSH,T3,T4,Free T4,ACTH,Cortisol, AldosteronePRA,PTH,Insulin etc. Cancer Cancer α-thalassemia β-thalassemia cancer Spinal muscular atroply DMD SMA (* ) 07-3121100 Ext7055 綉 2,000(/ ) 07-3121100 Ext7055 綉 1,500(/ ) 07-3121100 Ext7071 3,300(/ ) 07-3121100 Ext7071 9,000(/ ) 07-3121100 Ext6486,2268 07-3121100 Ext6755 (CAH) 07-3121100 Ext7150 (CHT) 2,500(/ ) A-57
PhenylpyruvateAlpha-keto acid (* ) Ferric Chloride Test (FCT) 2,4-Dinitrophenylhydrazine Compound with disulfide linkage (DNPH) Mucopolysaccharides Cyanide Nitroprusside (CNP) Glycosaminoglycans 07-3121100 Ext7049 150(/ ) Benedict s Test (RS) Reducing Substances Para-Nitroaniline Test (PNA) Methylmalonic acid Nitronaphthol Test (NNT) Ethylmalonic acid p-hydroxyphenolic acid deridatives Homocystinineuria (HCU), MSUD, PKU, (Blood amino acids analysis- Tyrosinenemia, 04-22052121 Ext1561 2,500(/ ) LC/MS/MS) Argininosuccinase deficiency acidemia (PPA), Methylmalonic aciduria (Blood acylcarnitine (MMA), Glutaric aciduria analysis- LC/MS/MS) Type 1 and 2, Isovaleric acidemia, SCAD, MCAD, LCAD, Translocase Propionic 04-22052121 Ext1561 A-58 2,000(/ )
(* ) Propionic acidemia (PPA), Methylmalonic aciduria (MMA), (Urine organic acid 04-22052121 Ext1561 2,000(/ ) Glutaric aciduria Type 1 and 2, analysis- GC/MS) Isovaleric acidemia, SCAD Cleidocranial dysplasia (DNA full sequence) Glutaric aciduria type I (DNA full sequence) Glycogen storage disease typr Ia (DNA full sequence) (GSDIa) GM1-gangliosidosis (DNA full sequence) Hereditary hemorrhagic telangiectasia (HHT) (DNA full sequence) type I and II (Osler-Rendu-Weber disease) A-59 * 500 04-22052121 Ext1561 8 350 ** 1500 04-22052121 Ext1561 11 04-22052121 Ext1561 6 04-22052121 Ext1561 16 04-22052121 Ext1561 12/9
HMG-CoA lyase deficiency (DNA full sequence) Isovaleric aciduria type I (DNA full sequence) MPS IVA (DNA full sequence) MPS VI (DNA full sequence) Multiple exostoses type I and II (DNA full sequence) Pelizaeus-Merzbacher disease/ X-Linked Spastic (Gene quantity analysis) Paraplegia Retinopigmemtosa (X-linked, XRP2) (DNA full sequence) Spondylocostal dysostosis (DNA full sequence) Thyroid peroxidase deficiency (TPO) (DNA full sequence) Type I Oculocutaneous Albinism (OCAI) (DNA full sequence) Von Hippel-Lindau disease (DNA full sequence) X-linked juvenile retinoschisis (DNA full sequence) (* ) 04-22052121 Ext1561 9 04-22052121 Ext1561 12 04-22052121 Ext1561 14 04-22052121 Ext1561 8 04-22052121 Ext1561 12/13 04-22052121 Ext1561 6 04-22052121 Ext1561 5 04-22052121 Ext1561 8 04-22052121 Ext1561 17 04-22052121 Ext1561 6 04-22052121 Ext1561 4 04-22052121 Ext1561 6 A-60
X-linked recessive spondyloepiphyseal (DNA full sequence) dysplasia tarda Spinal muscular atrophy (Gene quantity analysis) (DNA mutation hot spot analysis- restriction Achondroplasia enzyme digestion) (DNA mutation hot spot analysis- restriction Apert syndrome enzyme digestion) (DNA mutation hot spot analysis- restriction Gaucher s disease enzyme digestion) (DNA mutation hot spot analysis- restriction GSDII (Pompe disease) enzyme digestion) (DNA mutation hot spot analysis- restriction Hypochondroplasia enzyme digestion) (DNA short tandem repeat analysis- PCR base) Fragile X Huntington disease (DNA short tandem repeat analysis- PCR base) (* ) 04-22052121 Ext1561 4 04-22052121 Ext1561 2 04-22052121 Ext1561 2 04-22052121 Ext1561 2 04-22052121 Ext1561 1 04-22052121 Ext1561 1 04-22052121 Ext1561 3 04-22052121 Ext1561 1 04-22052121 Ext1561 2 A-61
(DNA short tandem repeat Myotonic dystrophy analysis- PCR base) Spinocerebellar ataxia (SCA1, SCA2, SCA3, (DNA short tandem repeat DRPLA, SCA6, SCA7) analysis- PCR base) Adrenoleukodystrophy (Linkage Analysis) Autosomal dominant polycystic kidney (Linkage Analysis) disease (ADPKD) type I and II Congenital heart disease (Linkage Analysis) Duchenne / Becker muscular dystrophy (Linkage Analysis) (D/BMD) Ectodermal dysplasia (Linkage Analysis) Greig-cephalopolysyndactyly syndrome (Linkage Analysis) Hereditary hemorrhagic telangiectasia (HHT) type I and II (Linkage Analysis) (Osler-Rendu-Weber disease) Lesch-Nyhan (Linkage Analysis) (* ) 04-22052121 Ext1561 1 04-22052121 Ext1561 6 04-22052121 Ext1561 5 04-22052121 Ext1561 12 04-22052121 Ext1561 11 04-22052121 Ext1561 10 04-22052121 Ext1561 5 04-22052121 Ext1561 5 04-22052121 Ext1561 12 04-22052121 Ext1561 5 A-62
Lissencephaly syndrome (Linkage Analysis) Multiple exostoses type I and II (Linkage Analysis) Prader-Willi syndrome (Linkage Analysis) Retinopigmemtosa (Linkage Analysis) (RP2, 3, 4, 6, 11, 14, 19) Wilson disease (Linkage Analysis) Wolf-Hirschhorn (4p deletion) syndrome (Linkage Analysis) Antley Bixler syndrome (DNA partial sequence) Crouzon syndrome (DNA partial sequence) Cystic fibrosis (DNA partial sequence) Nonspecific craniosynostosis (DNA partial sequence) Pfeiffer syndrome (DNA partial sequence) (* ) 04-22052121 Ext1561 4 04-22052121 Ext1561 12 04-22052121 Ext1561 4 04-22052121 Ext1561 21 04-22052121 Ext1561 8 04-22052121 Ext1561 5 04-22052121 Ext1561 1 04-22052121 Ext1561 4 04-22052121 Ext1561 1 04-22052121 Ext1561 4 04-22052121 Ext1561 3 A-63
Skeletal dysplasia (DNA partial sequence) Thanatophoric dysplasia (DNA partial sequence) (* ) 04-22052121 Ext1561 4 04-22052121 Ext1561 2 A-64