Hyperlysinemia
Hyperlysinemia is an autosomal recessive metabolic disorder characterized by an abnormal increase of lysine in the blood, but appears to be benign. It is caused by mutations in AASS, which encodes α-aminoadipic semialdehyde synthase.
Hyperlysinemia is associated with ectopia lentis (a displacement or malposition of the eye's crystalline lens) in humans.
Genetics
Hyperlysinemia is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Diagnosis
- Hyperlysinemia on GARD
Treatment
- Genetic basis of hyperlysinemia-Orphanet Journal of Rare Diseases, on BMC, cited by Houten, S.M., te Brinke, H., Denis, S. et al. Genetic basis of hyperlysinemia. Orphanet J Rare Dis 8, 57 (2013).
See also
- Saccharopinuria