The current reference values are stated in the letter with the results.
Enzyme testing is available for the following groups of disorders:
(Click on the disorder for more information)
- Peroxisomal defects (PDs)
- Mitochondrial fatty acid oxidation disorders (FAOD)
- Lysosomal storage disorders
- Ketolysis defects
- Amino acid metabolism
- Cholesterol/isoprenoid synthesis defects
- Purine and pyrimidine metabolism defects
- Carbohydrate metabolism defects
- Neurotransmitter defects
- Hyperoxaluria
- Sjögren-Larsson syndrome
- X-linked ichthyosis
- Biotinidase deficiency
For a complete list of Enzyme diagnostics in alphabetical order click here.