AASS : aminoadipate-semialdehyde synthase
The AASS Gene: Encoding a Bifunctional Enzyme in Lysine Metabolism
Description
The AASS gene encodes an enzyme called aminoadipic semialdehyde synthase (AASS), a bifunctional protein that plays a crucial role in the breakdown of the amino acid lysine, an essential component of proteins. AASS is primarily found in the liver, with lesser amounts in other tissues.
Associated Diseases
Mutations in the AASS gene have been linked to the following genetic disorders:
- Saccharopine dehydrogenase deficiency: This rare condition results in the accumulation of saccharopine and other metabolites, leading to developmental delay, intellectual disability, and seizures.
- Lysinuric protein intolerance (LPI): This disorder affects the breakdown of lysine, causing high levels of lysine and its metabolites in the urine. Symptoms include growth retardation, muscle weakness, and vomiting.
Did you Know ?
A study estimated that the prevalence of LPI is approximately 1 in 60,000 newborns.
