생화학유전학
생화학 유전학 검사 : 유전성 대사 질환에서 결핍된 원인 효소를 분석하는 검사
- Quantitative amino acid analysis (의뢰검사)
- Enzyme assay
- Galactose-1-phosphate uridyltransferase : Galactosemia
- β-Galactosidase : GM1-gangliosidosis
- β-Glucosidase : Gaucher disease
- Hexosaminidase A : Tay-Sachs disease
- α-Mannosidase : Mannosidosis
- Arylsulfatase A : Metachromatic leukodystrophy
- Biotinidase : Biotinidase deficiency
- Urine organic acid analysis (의뢰검사)
- α-N-Acetylglucosaminidase : Sanfilippo syndrome
- α-Galactosidase : Fabry disease
- α-Glucosidase : Pompe disease
- β-Glucuronidase : Mucopolysaccharidosis type VII
- α-Iduronidase : Mucopolysaccharidosis type I
- Neuraminidase : Sialidosis
- Arylsulfatase B : Maroteaux-Lamy syndrome
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