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Hyperlysinemia

 

Hyperlysinemia

Hyperlysinemia
Classification and external resources
ICD-10 E72.3
ICD-9-CM 270.7
OMIM 238700
DiseasesDB 33215
MeSH D020167

Hyperlysinemia is an autosomal recessive[1] metabolic disorder characterized by an abnormal increase of lysine in the blood, but appears to be benign.[2] It is caused by mutations in AASS, which encodes α-aminoadipic semialdehyde synthase.[1][3]

Hyperlysinemia has an autosomal recessive pattern of inheritance.

Genetics

Hyperlysinemia is inherited in an autosomal recessive manner.[1] 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.

See also

References

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