Enzymes

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.