Department of Chemical pathology

Postnatal diagnoses

Prenatal diagnoses

Disorder

Diagnostic Parameters

Adrenoleukodystrophy, X-linked (4)

Plasma very long chain fatty acid ratios and mutation analysis

Adrenomyeloneuropathy

Plasma very long chain fatty acid ratios and mutation analysis

Congenital disorder of glycosylation type Ia

Transferrin isoforms and phophomannomutase activity

Cystic fibrosis (3)

Mutation analysis

Galactosialidosis

Neuraminidase and b-galactosidase activity

Gaucher disease (2)

β-glucocerebrosidase activity and mutation analysis

Glucose storage disease Ia

Liver glucose-6-phosphatase activity

I-cell disease

Plasma lysosomal enzyme activities

Ichthyosis, X-linked

Steroid sulphatase

Krabbe disease (3)

β-galactocerebrosidase activity

Late-infantile neuronal ceroid lipofuscinosis

Tripeptidyl peptidase I activity

MPS I

Urine mucopolysaccharide screen, a-L-iduronidase activity

MPS II (12)

Urine mucopolysaccharide screen, iduronate-2-sulphatase activity and mutation analysis

MPS IIIA (2)

Urine mucopolysaccharide screen, sulphamidase activity and mutation analysis

MPS IIIB

Urine mucopolysaccharide screen, a-N-acetylglucosaminidase activity

MPS IVA

Urine mucopolysaccharide screen, N-acetylgalactose-6-sulphatase activity

Niemann-Pick disease type C (2)

Cholesterol esterification and filipin staining

Niemann-Pick disease types A&B (3)

Sphingomyelinase activity

Peroxisomal biogenesis disorder (2)

Plasma very long chain fatty acid ratios and peroxisomal enzyme analysis

Peroxisomopathy

Plasma very long chain fatty acid ratios and peroxisomal enzyme analysis

Pompe disease (3)

α-1,4-glucosidase activity

Primary hyperoxaluria type I

Glyoxalate aminotransferases

Sandhoff disease (2)

Total b-hexosaminidase activity

Tay-Sachs disease

β-hexosaminidase A activity

Disorder	Outcome	Diagnostic Parameter
Adrenoleucodystrophy, X-linked	Affected	Mutation analysis
Cystic fibrosis	Affected Affected Not affected Not affected Not affected Not affected Not affected Not affected	Mutation analysis Mutation analysis Microvillar enzyme analysis Mutation analysis Mutation analysis Mutation analysis Mutation analysis Mutation analysis
D-bifunctional protein deficiency	Affected	Mutation analysis
Fabry disease	Affected	Mutation analysis
Galactosialidosis	Affected	Enzyme activity in CV tissue and cells
Krabbe disease	Not affected	Enzyme assay in cultured amniotic cells
Metachromatic leucodystrophy	Not affected Not affected	Mutation analysis Mutation analysis
MPS I	Not affected Not affected	Mutation analysis Mutation analysis
MPS III	Not affected	Mutation analysis in CV tissue
Niemann-Pick disease type C	Not affected	Cholesterol esterification and filipin staining in CV cells
Pompe disease	Affected Not affected	Enzyme activity in CV tissue Enzyme activity in CV tissue
Sandhoff disease	Not affected	Enzyme assay in cultured CV cells
Smith-Lemli-Opitz syndrome	Not affected	7-dehydrocholesterol in amniotic fluid
Zellweger syndrome	Affected Not affected Not affected	Mutation analysis Enzyme activity in CV tissue Enzyme activity in CV tissue