Hyperlysinemia

Hyperlysinemia

Classification and external resources
Specialty endocrinology
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 is associated with ectopia lentis (a displacement or malposition of the eye's crystalline lens) in humans.[4][5][6]

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

  1. 1 2 3 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.
  2. ↑ Dancis, J; Hutzler J; Ampola MG; Shih VE; van Gelderen HH; Kirby LT; Woody NC (May 1983). "The prognosis of hyperlysinemia: an interim report". Am J Hum Genet. 35 (3): 438–442. PMC: 1685659. PMID 6407303.
  3. ↑ Houten, Sander; te Brinke H, Denis S, Ruiter JP, Knegt AC, de Klerk JB, Augoustides-Savvopoulou P, Häberle J, Baumgartner MR, Coşkun T, Zschocke J, Sass JO, Poll-The BT, Wanders RJ, Duran M (Apr 9, 2013). "Genetic basis of hyperlysinemia". Orphanet J Rare Dis. 8: 57. doi:10.1186/1750-1172-8-57. PMC: 3626681. PMID 23570448. Cite uses deprecated parameter |coauthors= (help)
  4. ↑ Eifrig, Charles W (10 March 2015). "Ectopia Lentis Clinical Presentation: Causes". Medscape. WebMD LLC. Retrieved 9 December 2015.
  5. ↑ Basak, Samar K. (2013). Atlas of clinical ophthalmology (Second ed.). New Delhi: Jaypee brothers. p. 231. ISBN 9789350903254.
  6. ↑ Kaiser, Neil J. Friedman, Peter K. (2012). Case reviews in ophthalmology. Edinburgh: Saunders Elsevier. p. 184. ISBN 9781437726138.


This article is issued from Wikipedia - version of the Sunday, April 17, 2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.