新生兒先天代謝異常疾病篩檢作業手冊

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2 ( (G) (E) (E) (G) G E (Mendelian inheritance) ( ) (autosomal dominant) (Huntington s chorea) ( ) (autosomal recessive) (cystic fibrosis) ( ) (hemophilia) (multifactorial inheritance) ( ) ( ) III-1

3 (genetic heterogeneity) McKusick /50 1/100 1/ (Down syndrome) 3-4 (Turner syndrome) 150 (triploidy) (tetraploidy) (stillbirth) (neonatal death) ( 0.21 ) 3 ( 0.12 ) (2/1,000) (0.5/1,000) (0.8/1,000) (0.4/1,000) III-2

4 Tay-Sachs ) ( ) Madras III-3

5 /4 (1) (2) (3) (congenital hypothyroidism) (hemoglobino pathesis) (α-antitrypsin deficiency) (Duchenne III-4

6 muscular dystrophy) 1960 Guthrie 1962 (bacterial inhibition assay) (phenylketonuria) (maple syrup urine disease) (histidinemia) (galactosemia) (homocystinuria) 1970 Dussault 1974 (radioimmunoassay) 1:4,000-1:5,000 1:13,000 1:50,000 1:170,000 1:200,000 III-5

7 III-6

8 (thyroxine T4) (congenital hypothyroidism) 1/3,000 ( ) 1 (athyreosis) 2 (thyroid hypoplasia) 3 (ectopic thyroid) ( ) ( ) 1/50,000 1/150,000 III-7

9 ( ) (transient congenital hypothyroidism) (L-thyroxine) (thyroid stimuiating hormone TSH) 10 mu/l blood 10 mu/l ( ) ( ) ( ) ( )thyroid sonogram 99m Tc thyroid scan( ) III-8

10 1934 Dr. Folling (phenylpyruvic acid) 1937 (phenylketonuria PKU) (phenylalanine Phe) (hydroxylation) (tyrosine Tyr) 酶酶 (phenylalanine hydroxylase PAH) 酶 (Gtp cyclohydrolase I GTPCHI) 酶 (6-pyruvoyl tetrahydropterin synthase PTPS) 酶 (dihydropteridine reductase DHPR) 酶 (pterin-4α-carbinolamine dehydratase PCD) 酶 (PAH) PKU 98 99% PKU 70 80% 酶 (tetrahydrobiopterin BH4) ( ) 酶 PKU 20% 30% III-9

11 PKU BH4 PKU ( ) PKU 4-8 mg/dl (maternal PKU) ( ) ( 酶酶酶 ) BH4(1-5 mg/kg/day) 4mg/dL L-dopa (5-15 mg/kg/day) 5-hydroxy tryptophan (4-10 mg/kg/day) carbidopa(1-2 mg/kg/day) ( ) 酶 BH4 folinic acid PKU 2 mg/dl blood ( 48 ) PKU III-10

12 ( ) ( ) ( ) (GC/Mass) ( ) (HPLC) (neopterin N) 酶 (biopterin B) B%=[B/(B+N)] 100% ( ) DHPR ( )BH4 (BH4 loading test) BH4 (7.5 mg/kg) mg/dl BH4 (responsive) BH4 (nonresponsive) PKU ( ) PKU B% ( ) BH4 DHPR ( )GTPCHI PKU B% N BH4 DHPR ( )PTPS SR PKU B% 5% BH4 DHPR ( )DHPR PKU B% 80% BH4 DHPR ( )PCD PKU 7- (7-biopterin) III-11

13 (homocystinuria) 酶 (cystathionine-β-synthase) (homocysteine) (cystine Cys) (methionine Met) (homocystine Hcy ) (Mix disulfide) B6(VitB6) (betain) B6 B6 B12 (folic acid) B mg/day 1 mg/dl blood 酶 III-12

14 (galactosemia) (galactose) (glucose) 酶酶 (galactokinase) -1- 苷酶 (galactose-1-phosphate uridyltransferase) 苷 -4- 酶 (UDP galactose-4-epimerase) -1- 苷酶 -1- 苷酶酶苷 -4- 酶 AL (galactose-1-phosphate) galactitol (galactose-1-phosphate uridyl- transferase ) ( ) ( Uridine) III-13

15 -1-8 mg/dl blood 酶 -1- 苷酶 III-14

16 - - 酶 - - 酶 (glucose-6-phosphate dehydrogenase G6PD) (X-link) G6PD 酶苷肽 (Glutathione, G-SH) G6PD G-SH G6PD 2% G6PD G6PD ( ) ( ) G6PD 萘 ( ) G6PD G6PD 20% (Heterozygote) G6PD ( ) 80% G6PD III-15

17 " "(genetic counseling) 1947 (Reed) " " " " III-16

18 " (clinical geneticist) (PhD medical geneticist) (clinical cytogeneticist) (clinical biochemical geneticist) (genetic counselor) ( " ") ( ) III-17

19 ( ) ( ) ( ) ( ) -- III-18

20 III-19

21 ( ) ( ) " "(forme fruste) " "(forme tardive) " " " " " " ( ) III-20

22 " " " III-21

23 III-22

24 ( ) ( ) III-23

25 1992;91(3):S183-6 : 1987 : 199l 1982;23:31-5 : 1985;26:542-7 : 1970;11:163-5 Bergsma D:Birth Defects and Compendium, 2nd ed. New York:Alan R Liss, 1979: Emery AEH, Rimoin DL:Principles and Practice of Medical Genetics, 2nd ed.edinburgh:churchill Livingstone,1990: III-24

26 Fuhrmann W, VogeI F:Genetic Counseling, 3rd ed New York:Springer-Verlag, 1983: HarPer PS:Practical Genetic Counselling, 3rd ed. London:Wright, 1988: Murphy EA, Chase GA:Principles of Genetic Counselng. Chicago: Year Book Medical Publishers, 1975: III-25

新生兒先天代謝異常疾病篩檢作業手冊

新生兒先天代謝異常疾病篩檢作業手冊 ------------------------------------------------------------------- 1 I ---------------------------- I- 1 ---------------------------- I- 3 ---------------------------- I- 4 ----------------------------