| Test |
Associated Disease(s) |
|
N-acetylgalactosamine-4-sulphatase
|
MPS VI (Maroteaux-Lamy syndrome)
|
|
N-acetylgalactose-6-sulphatase
|
MPS IVA (Morquio syndrome A)
|
|
N-acetylglucosamine-6-sulphatase
|
MPS IIID (Sanfilippo syndrome D)
|
α-N-acetylglucosaminidase
|
MPS IIIB (Sanfilippo syndrome B)
|
|
Arylsulphatase A
|
Metachromatic leucodystrophy
|
|
Aspartamido-ß-acetylglucosaminidase
|
Aspartylglucosaminuria
|
|
Bile acid intermediates
|
Peroxisomal biogenesis disorders
Isolated peroxisomal b-oxidation disorders
|
|
Bile alcohols
|
Cerebrotendinous xanthomatosis
|
|
Branching enzyme
|
GSD IV (Andersen disease)
|
|
Carnitine palmitoyl transferase (CPT) I (Metabolic laboratory)
|
CPT I deficiency
|
|
Carnitine palmitoyl transferase (CPT) II (Metabolic laboratory)
|
CPT II deficiency
|
|
Ceramidase
|
Farber’s disease
|
|
Cholesterol esterification
|
Niemann-Pick disease, type C
|
|
14C-citrulline metabolism
|
Citrullinaemia
|
|
35S-cysteine metabolism
|
Cystinosis
|
|
Debrancher enzyme
|
GSD III (Cori disease)
|
|
7-dehydrocholesterol
|
Smith-Lemli-Opitz syndrome
|
|
Dihydroxyacetonephosphate acyl transferase
|
Peroxisomal biogenesis disorders
Isolated plasmalogen synthesis disorders
|
|
Dihydroxyacetonephosphate alkyl synthase
|
Rhizomelic chondrodysplasia punctata
Peroxisomal biogenesis disorders
Isolated plasmalogen synthesis disorders
|
|
Filipin staining
|
Niemann-Pick disease, type C
|
α-fucosidase
|
Fucosidosis
|
β-galactocerebrosidase
|
Krabbe disease
|
|
Galactose-1-phosphate uridyl transferase
|
Galactosaemia prenatal analysis
|
α-galactosidase
|
Fabry disease
|
β-galactosidase
|
Galactosialidosis
GM1-gangliosidosis
MPS IVB (Morquio syndrome B)
|
β-glucocerebrosidase
|
Gaucher disease
|
|
Glucosamine-N-acetyltransferase
|
MPS IIIC (Sanfilippo syndrome C)
|
|
Glucose-6-phosphatase
|
Glycogen storage disease (GSD) type Ia
|
α-1,4-glucosidase
|
GSD II (Pompe disease)
|
β-glucuronidase
|
MPS VII (Sly syndrome)
|
|
Glycerol kinase
|
Glycerol kinase deficiency
|
|
Alanine:glyoxalate (glutamate:glyoxylate) aminotransferases
|
Hyperoxaluria, type I
|
β-hexosaminidase A
|
Tay-Sachs disease
|
|
Hypoxanthine-guanine phosphoribosyl transferase
|
Lesch-Nyhan syndrome
|
|
Iduronate-2-sulphatase
|
MPS II (Hunter syndrome)
|
α-L-iduronidase
|
MPS I (Hurler syndrome, Scheie syndrome)
|
|
[1-14C]-leucine metabolism
|
Maple syrup urine disease
|
|
[2-14C]-leucine metabolism
|
Isovaleric acidaemia
|
|
Liver phosphorylase
|
GSD VI (Hers disease)
|
α-mannosidase
|
α-mannosidosis |
|
Microvillar enzyme studies
|
Cystic fibrosis prenatal analysis
|
|
Muscle phosphorylase
|
GSD V (McArdle disease)
|
|
Neuraminidase
|
Galactosialidosis
Sialidosis
|
|
Ornithine transcarbamylase
|
Ornithine transcarbamylase deficiency
|
|
Phophomannose isomerase
|
CDG Ib
|
|
Phosphmannomutase
|
CDG Ia
|
|
Phosphorylase ‘b’ kinase
|
GSD VIII
|
|
Phytanic acid
|
Refsum disease (adult form)
Rhizomelic chondrodysplasia punctata
Peroxisomal biogenesis disorders
|
|
Phytanic acid oxidation
|
Refsum disease (adult form)
Rhizomelic chondrodysplasia punctata
Peroxisomal biogenesis disorders
|
|
Plasmalogens
|
Peroxisomal biogenesis disorders Rhizomelic chondrodysplasia punctata
|
|
Sialic acid
|
Sialic acid storage disease
|
|
Sphingomyelinase
|
Niemann-Pick disease, types A & B
|
|
Steroid sulphatase
|
Ichthyosis, X-linked
|
|
Sulphamidase
|
MPS IIIA (Sanfilippo syndrome A)
|
|
Total hexosaminidase
|
Sandhoff disease
|
|
Transferrin isoform analysis
|
Congenital defects of glycosylation (CDG)
|
|
Tripeptidyl peptidase I
|
Late-infantile neuronal ceroid lipofuscinosis
|
|
Very long chain fatty acid ratios
|
Adrenoleucodystrophy
Isolated peroxisomal b-oxidation disoders
Peroxisomal biogenesis disorders
|
