Hyperlysinemia: Difference between revisions
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{{Infobox |
{{Infobox medical condition (new) |
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| name = Hyperlysinemia |
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| image = L-lysine-skeletal.png |
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| caption = [[lysine]] |
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| synonyms = Lysine alpha-ketoglutarate reductase deficiency<ref>{{Cite web |title=Hyperlysinemia {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program |url=https://rarediseases.info.nih.gov/diseases/2828/disease |access-date=16 April 2019 |website=rarediseases.info.nih.gov}}</ref> |
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'''Hyperlysinemia''' is an [[autosome|autosomal]] [[dominance (genetics)|recessive]]<ref name=har>{{ |
'''Hyperlysinemia''' is an [[autosome|autosomal]] [[dominance (genetics)|recessive]]<ref name="har">{{Cite journal |vauthors=Sacksteder KA, Bier BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT |date=June 2000 |title=Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia |journal=American Journal of Human Genetics |volume=66 |issue=6 |pages=1736–1743 |doi=10.1086/302919 |pmc=1378037 |pmid=10775527}}</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 |last2=Hutzler J |last3=Ampola MG |last4=Shih VE |last5=van Gelderen HH |last6=Kirby LT |last7=Woody NC |date=May 1983 |title=The prognosis of hyperlysinemia: an interim report |journal=Am J Hum Genet |volume=35 |issue=3 |pages=438–442 |pmc=1685659 |pmid=6407303}}</ref> It is caused by mutations in ''[[AASS (gene)|AASS]]'', which encodes [[Alpha-aminoadipic semialdehyde synthase|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 |date=Apr 9, 2013 |title=Genetic basis of hyperlysinemia |journal=Orphanet J Rare Dis |volume=8 |pages=57 |doi=10.1186/1750-1172-8-57 |pmc=3626681 |pmid=23570448 |doi-access=free}}</ref> |
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Hyperlysinemia is associated with [[ectopia lentis]] (a displacement or malposition of the [[Lens (anatomy)|eye's crystalline lens]]) in humans.<ref>{{Cite web |last=Eifrig |first=Charles W |date=10 March 2015 |title=Ectopia Lentis Clinical Presentation: Causes |url=http://emedicine.medscape.com/article/1211159-clinical#b5 |access-date=9 December 2015 |website=Medscape |publisher=WebMD LLC}}</ref><ref>{{Cite book |last=Basak |first=Samar K. |title=Atlas of clinical ophthalmology |date=2013 |publisher=Jaypee brothers |isbn=9789350903254 |edition=Second |location=New Delhi |pages=231}}</ref><ref>{{Cite book |last=Kaiser |first=Neil J. Friedman, Peter K. |title=Case reviews in ophthalmology |date=2012 |publisher=Saunders Elsevier |isbn=9781437726138 |location=Edinburgh |page=184}}</ref> |
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==Signs and symptoms== |
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While hyperlysinemia typically causes no health problems, patients may exhibit behavioral abnormalities, delayed speech and language development, [[Infantile Hypotonia|infantile hypotonia]], [[intellectual disability]], [[microcephaly]], [[neurodevelopmental delay]], [[psychomotor retardation]], [[Seizure|seizures]], short [[Attention span|attention spans]], and [[short stature]].<ref>{{Cite web |title=Hyperlysinemia |url=https://rarediseases.info.nih.gov/diseases/2828/hyperlysinemia |access-date=21 February 2023 |website=Genetics and Rare Diseases Information Center |language=en}}</ref> |
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== Genetics == |
== Genetics == |
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[[File:Autosomal recessive - en.svg|thumb|140 px|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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==Diagnosis== |
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{{Empty section|date=January 2017}} |
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==Treatment== |
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{{Empty section|date=January 2017}} |
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== See also == |
== See also == |
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* [[Lysinuria]] |
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* [[Saccharopinuria]] |
* [[Saccharopinuria]] |
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== References == |
== References == |
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{{ |
{{Reflist}} |
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== External links == |
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{{Medical resources |
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| ICD10 = {{ICD10|E|72|3|e|72}} |
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| ICD9 = {{ICD9|270.7}} |
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| OMIM = 238700 |
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| MedlinePlus = |
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| MeshID = D020167 |
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|Orphanet=2203|ICD11={{ICD11|5C50.4}}|GARDNum=2828|GARDName=hyperlysinemia}} |
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{{Amino acid metabolic pathology}} |
{{Amino acid metabolic pathology}} |
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[[Category:Amino acid metabolism disorders]] |
[[Category:Amino acid metabolism disorders]] |
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[[Category:Autosomal recessive disorders]] |
[[Category:Autosomal recessive disorders]] |
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[[Category:Rare diseases]] |
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{{genetic-disorder-stub}} |
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Latest revision as of 18:11, 29 October 2024
 | This article needs additional citations for verification. (July 2020) |
| Hyperlysinemia | |
|---|---|
| Other names | Lysine alpha-ketoglutarate reductase deficiency[1] |
 | |
| lysine | |
| Specialty | Endocrinology  |
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]
Signs and symptoms
[edit]While hyperlysinemia typically causes no health problems, patients may exhibit behavioral abnormalities, delayed speech and language development, infantile hypotonia, intellectual disability, microcephaly, neurodevelopmental delay, psychomotor retardation, seizures, short attention spans, and short stature.[8]
Genetics
[edit]
Hyperlysinemia is inherited in an autosomal recessive manner.[2] 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
[edit]![[icon]](/enwiki/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (January 2017) |
Treatment
[edit] | This section is empty. You can help by adding to it. (January 2017) |
See also
[edit]References
[edit]- ^ "Hyperlysinemia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 16 April 2019.
- ^ 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.
- ^ 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) - ^ "Hyperlysinemia". Genetics and Rare Diseases Information Center. Retrieved 21 February 2023.