Hyperlysinemia

Hyperlysinemia
lysine
Classification and external resources
Specialty	Biochemical Genetics
ICD-10	E72.3
ICD-9-CM	270.7
OMIM	238700
DiseasesDB	33215
MeSH	D020167
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Hyperlysinemia is an autosomal recessivemetabolic 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.

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.

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