Hyperlysinemia
 | This article needs additional citations for verification. (July 2008) |
| Hyperlysinemia | |
|---|---|
| Specialty | Endocrinology  |
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]
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
- ^ a b c Sacksteder KA, Bier BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT (June 2000). "Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia". American Journal of Human Genetics. 66 (6): 1736–1743. doi:10.1086/302919. PMC 1378037. PMID 10775527.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Dancis, J (1983 May). "The prognosis of hyperlysinemia: an interim report". Am J Hum Genet. 35 (3): 438. PMID 6407303.
{{cite journal}}: Check date values in:|date=(help); More than one of|pages=and|page=specified (help); Unknown parameter|coauthors=ignored (|author=suggested) (help) - ^ Houten, Sander (2013 Apr 9). "Genetic basis of hyperlysinemia". Orphanet J Rare Dis. 8: 57. doi:10.1186/1750-1172-8-57. PMID 23570448.
{{cite journal}}: Check date values in:|date=(help); Unknown parameter|coauthors=ignored (|author=suggested) (help)CS1 maint: unflagged free DOI (link)
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |