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 |vauthors=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 |pmc=1685659}}</ref> It is caused by mutations in ''[[AASS (gene)|AASS]]'', which encodes α-aminoadipic semialdehyde synthase.<ref name="har"/><ref>{{cite journal|vauthors=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 |title=Genetic basis of hyperlysinemia|journal=Orphanet J Rare Dis |
'''Hyperlysinemia''' is an [[autosome|autosomal]] [[dominance (genetics)|recessive]]<ref name=har>{{cite journal |pmid=10775527 |date=June 2000 |vauthors=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 |pmc=1685659}}</ref> It is caused by mutations in ''[[AASS (gene)|AASS]]'', which encodes α-aminoadipic semialdehyde synthase.<ref name="har"/><ref>{{cite journal|vauthors=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 |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|pmc=3626681}}</ref> |
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Hyperlysinemia is associated with [[ectopia lentis]] (a displacement or malposition of the eye's crystalline lens) in humans.<ref>{{cite web|first=Charles W |last=Eifrig |url=http://emedicine.medscape.com/article/1211159-clinical#b5|title=Ectopia Lentis Clinical Presentation: Causes |work=Medscape|publisher=WebMD LLC|date=10 March 2015|accessdate=9 December 2015}}</ref><ref>{{cite book|last1=Basak|first1=Samar K.|title=Atlas of clinical ophthalmology|date=2013|publisher=Jaypee brothers|location=New Delhi|isbn=9789350903254|pages=231|edition=Second}}</ref><ref>{{cite book|last1=Kaiser|first1=Neil J. Friedman, Peter K.|title=Case reviews in ophthalmology|date=2012|publisher=Saunders Elsevier|location=Edinburgh|isbn=9781437726138|page=184}}</ref> |
Hyperlysinemia is associated with [[ectopia lentis]] (a displacement or malposition of the eye's crystalline lens) in humans.<ref>{{cite web|first=Charles W |last=Eifrig |url=http://emedicine.medscape.com/article/1211159-clinical#b5|title=Ectopia Lentis Clinical Presentation: Causes |work=Medscape|publisher=WebMD LLC|date=10 March 2015|accessdate=9 December 2015}}</ref><ref>{{cite book|last1=Basak|first1=Samar K.|title=Atlas of clinical ophthalmology|date=2013|publisher=Jaypee brothers|location=New Delhi|isbn=9789350903254|pages=231|edition=Second}}</ref><ref>{{cite book|last1=Kaiser|first1=Neil J. Friedman, Peter K.|title=Case reviews in ophthalmology|date=2012|publisher=Saunders Elsevier|location=Edinburgh|isbn=9781437726138|page=184}}</ref> |
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== References == |
== References == |
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{{Reflist}} |
{{Reflist}} |
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== External links == |
== External links == |
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{{Medical resources |
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Revision as of 12:24, 14 October 2018
 | This article needs additional citations for verification. (July 2008) |
| Hyperlysinemia | |
|---|---|
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| lysine | |
| 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]
Hyperlysinemia is associated with ectopia lentis (a displacement or malposition of the eye's crystalline lens) in humans.[4][5][6]
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.
Diagnosis
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Treatment
| This section is empty. You can help by adding to it. (January 2017) |
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.
- ^ 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.
- ^ 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.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ Eifrig, Charles W (10 March 2015). "Ectopia Lentis Clinical Presentation: Causes". Medscape. WebMD LLC. Retrieved 9 December 2015.
- ^ Basak, Samar K. (2013). Atlas of clinical ophthalmology (Second ed.). New Delhi: Jaypee brothers. p. 231. ISBN 9789350903254.
- ^ 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)
External links
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