Hyperlysinemia: Difference between revisions
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'''Hyperlysinemia''' is an [[autosome|autosomal]] [[dominance (genetics)|recessive]]<ref name=har>{{cite journal |pmid=10775527 |date=June 2000 |author=Sacksteder KA, Bier BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT |title=Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia |volume=66 |issue=6 |pages=1736–1743 |pmc=1378037 |doi=10.1086/302919 |journal=American Journal of Human Genetics}}</ref> [[metabolic disorder]] characterized by an abnormal increase of [[lysine]] in the [[blood]], but appears to be benign.<ref>{{cite journal|last=Dancis|first=J|author2=Hutzler J |author3=Ampola MG |author4=Shih VE |author5=van Gelderen HH |author6=Kirby LT |author7=Woody NC |title=The prognosis of hyperlysinemia: an interim report|journal=Am J Hum Genet.|date=May 1983|volume=35|issue=3|pages=438–442|pmid=6407303}}</ref> It is caused by mutations in |
'''Hyperlysinemia''' is an [[autosome|autosomal]] [[dominance (genetics)|recessive]]<ref name=har>{{cite journal |pmid=10775527 |date=June 2000 |author=Sacksteder KA, Bier BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT |title=Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia |volume=66 |issue=6 |pages=1736–1743 |pmc=1378037 |doi=10.1086/302919 |journal=American Journal of Human Genetics}}</ref> [[metabolic disorder]] characterized by an abnormal increase of [[lysine]] in the [[blood]], but appears to be benign.<ref>{{cite journal|last=Dancis|first=J|author2=Hutzler J |author3=Ampola MG |author4=Shih VE |author5=van Gelderen HH |author6=Kirby LT |author7=Woody NC |title=The prognosis of hyperlysinemia: an interim report|journal=Am J Hum Genet.|date=May 1983|volume=35|issue=3|pages=438–442|pmid=6407303}}</ref> It is caused by mutations in ''[[AASS]]'', which encodes α-aminoadipic semialdehyde synthase.<ref name="har"/><ref>{{cite journal|last=Houten|first=Sander|coauthors=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|title=Genetic basis of hyperlysinemia|journal=Orphanet J Rare Dis.|date=Apr 9, 2013|volume=8|pages=57|doi=10.1186/1750-1172-8-57|pmid=23570448}}</ref> |
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== Genetics == |
== Genetics == |
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[[Image:Autorecessive.jpg|thumb|left|Hyperlysinemia has an autosomal recessive pattern of [[inheritance]].]] |
[[Image:Autorecessive.jpg|thumb|left|Hyperlysinemia has an autosomal recessive pattern of [[inheritance]].]] |
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Hyperlysinemia is inherited in an autosomal recessive manner.<ref name=har/> 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 [[genetic carrier|carry]] one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. |
Hyperlysinemia is inherited in an autosomal recessive manner.<ref name=har/> 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 [[genetic carrier|carry]] one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. |
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Revision as of 13:52, 25 June 2014
 | 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; 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. PMID 6407303.
- ^ Houten, Sander (Apr 9, 2013). "Genetic basis of hyperlysinemia". Orphanet J Rare Dis. 8: 57. doi:10.1186/1750-1172-8-57. PMID 23570448.
{{cite journal}}: Unknown parameter|coauthors=ignored (|author=suggested) (help)CS1 maint: unflagged free DOI (link)
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