Hyperlysinemia

Hyperlysinemia
Other namesLysine alpha-ketoglutarate reductase deficiency[1]
lysine
SpecialtyEndocrinology Edit this on Wikidata

Hyperlysinemia is an autosomal recessive[2] metabolic disorder characterized by an abnormal increase of lysine in the blood, but appears to be benign.[3] It is caused by mutations in AASS, which encodes α-aminoadipic semialdehyde synthase.[2][4]

Hyperlysinemia is associated with ectopia lentis (a displacement or malposition of the eye's crystalline lens) in humans.[5][6][7]

  1. ^ "Hyperlysinemia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 16 April 2019.
  2. ^ a b 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.
  3. ^ 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.
  4. ^ Houten SM, 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.
  5. ^ Eifrig, Charles W (10 March 2015). "Ectopia Lentis Clinical Presentation: Causes". Medscape. WebMD LLC. Retrieved 9 December 2015.
  6. ^ Basak, Samar K. (2013). Atlas of clinical ophthalmology (Second ed.). New Delhi: Jaypee brothers. p. 231. ISBN 9789350903254.
  7. ^ Kaiser, Neil J. Friedman, Peter K. (2012). Case reviews in ophthalmology. Edinburgh: Saunders Elsevier. p. 184. ISBN 9781437726138.{{cite book}}: CS1 maint: multiple names: authors list (link)