Enzymes (a-z)
Diagnostic tests
- AcetylCoA-glucosamine acetyltransferase
- Acid Lipase
- Acyl-CoA oxidase 1 (ACOX1)
- Adenosine Deaminase (ADA)
- Adenosine Deaminase 2 (ADA2)
- α-D-galactosidase
- α-D-glucosidase
- α-D-mannosidase
- α-L-fucosidase
- α-L-iduronidase
- Aromatic-L-amino acid decarboxylase (AADC) *
- Arylsulfatase A
- Arylsulfatase A+B
- Arylsulfatase B
- Aspartylglucosaminidase
- β-D-galactosidase (GM1 gangliosidosis)
- β-D-galactosidase (MPS Type IV B)
- β-D-glucosidase (Gaucher)
- β-D-glucuronidase (MPS TypeVII)
- β-D-mannosidase
- β-ketothiolase (2-methyl-acetoacetyl-CoA specific)
- β-Ureidopropionase (β-UP)
- Biotinidase
- Carnitine/acylcarnitine transporter (CACT)
- Carnitine palmitoyltransferase 1 (CPT1)
- Carnitine palmitoyltransferase 2 (CPT2)
- Chitotriosidase (Gaucher)
- Complementation testing
- D-Bifunctional protein (DBP/MFP2)
- Dihydropyrimidinase (DHP)
- Dihydropyrimidine dehydrogenase (DPD)
- Dihydroxyacetone-phosphate acyltransferase (DHAPAT)
- Fatty aldehyde dehydrogenase (FALDH)
- Filipine staining
- Galactocerebrosidase
- Galactokinase (GALK)
- Galactose-1-phosphate
- Galactose-1-phosphate uridyltransferase (GALT)
- Glucose 6-phosphate dehydrogenase (G6PD)
- Glutaryl-CoA dehydrogenase (GCDH)
- Glyoxylate reductase (GR) *
- 3-Hydroxy-isobutyric acid dehydrogenase (HIBADH)
- 3-Hydroxy-isobutyryl-CoA hydrolase (HIBCH)
- 3-Hydroxy-3-methylglutaryl-CoA lyase (HMGCoA lyase)
- Hypoxanthine-guanine phosphoribosyltransferase (HGPRT)
- Iduronate sulfatase
- Immunoblot peroxisomal proteins
- Immunofluorescence ALD-protein (ALDP)
- Immunofluorescence catalase
- Isovaleryl-CoA dehydrogenase (IVD)
- Long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency
- Long-chain 3-ketothiolase (LCKAT) deficiency
- Medium-chain acyl-CoA dehydrogenase (MCAD)
- 3-Methyl-crotonyl-CoA carboxylase (MCC)
- 3-Methyl-glutaconyl-CoA hydratase (MGH)
- 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD)
- Methylmalonate semialdehyde dehydrogenase (MMSDH)
- Mevalonate kinase (MVK)
- Mitochondrial trifunctional protein (MTP) deficiency
- Myristate β-oxidation (flux assay)
- N-acetylgalactosamine-6-sulfatase (MPS Type IV A)
- N-acetyl-α-D-galactosaminidase
- N-acetyl-α-D-glucosaminidase
- N-acetyl-α-D-neuraminidase
- N-acetyl-β-D-glucosaminidase
- N-acetyl-β-D-glucosaminidase A
- N-acetyl-β-D-glucosaminidase A+B
- Oleate β-oxidation (flux assay)
- Ornithine aminotransferase (OAT)
- Palmitate loading test (acylcarnitine profiling)
- Palmitoyl-protein thioesterase
- Peroxisomal β-oxidation
- Peroxisomal thiolase branched-chain specific (SCPx)
- Phosphoribosylpyrophosphate synthetase (PRPPs)
- Phytanic acid α-oxidation
- Plasmalogens
- Plasmamembrane carnitinetransporter (OCTN2)
- Propionyl-CoA carboxylase (PCC)
- Protective protein / Cathepsine A
- Purine Nucleoside Phosphorylase (PNP)
- Pyruvate kinase (PK)
- Short branched-chain acyl-CoA dehydrogenase (SBCAD)
- Short-chain 3-hydroxy-acyl-CoA dehydrogenase (SCHAD)
- Short-chain acyl-CoA dehydrogenase (SCAD)
- Short-chain enoyl-CoA hydratase/Crotonase (ECHS1)
- Sphingomyelinase
- Steroid sulfatase (arylsulfatase C, ARYC)
- Sterol profiling *
- Succinyl-CoA: 3-oxoacid transferase (SCOT)
- Sulfamidase
- Thiopurine methyltransferase (TPMT)
- Thymidine phosphorlylase (TP)
- Tripeptidyl peptidase I
- UMP synthase
- Uridine-diphosphate galactose epimerase (GALE)
- Very long-chain acyl-CoA dehydrogenase (VLCAD)
- Very long-chain fatty acid analysis