Homocystinuria: Difference between revisions
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imported>Robert Badgett (New page: {{subpages}} In medicine, '''homocystinuria''' is an "autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of cystathionine beta-synthase an...) |
imported>Robert Badgett (Added infobox) |
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{{Infobox_Disease | | |||
Name = Homocystinuria | | |||
Image = | | |||
Caption = | | |||
DiseasesDB = | | |||
ICD10 = | | |||
ICD9 = | | |||
MeshID = D006712| | |||
OMIM = 236200 | | |||
MedlinePlus = 001199| | |||
}} | |||
In [[medicine]], '''homocystinuria''' is an "autosomal recessive inborn error of [[methionine]] metabolism usually caused by a deficiency of [[cystathionine beta-synthase]] and associated with elevations of [[homocysteine]] in plasma and urine. Clinical features include a tall, slender habitus, [[scoliosis]], [[arachnodactyly]], [[muscle weakness]], [[genu varis]], thin blond hair, malar flush, lens dislocations, an increased incidence of [[mental retardation]], and a tendency to develop fibrosis of arteries, frequently complicated by [[stroke|cerebrovascular accidents]] and [[myocardial infarction]].<ref>{{MeSH}}</ref> | In [[medicine]], '''homocystinuria''' is an "autosomal recessive inborn error of [[methionine]] metabolism usually caused by a deficiency of [[cystathionine beta-synthase]] and associated with elevations of [[homocysteine]] in plasma and urine. Clinical features include a tall, slender habitus, [[scoliosis]], [[arachnodactyly]], [[muscle weakness]], [[genu varis]], thin blond hair, malar flush, lens dislocations, an increased incidence of [[mental retardation]], and a tendency to develop fibrosis of arteries, frequently complicated by [[stroke|cerebrovascular accidents]] and [[myocardial infarction]].<ref>{{MeSH}}</ref> | ||
==References== | ==References== | ||
<references/> | <references/> | ||
Revision as of 23:31, 16 November 2008
| Homocystinuria | |
|---|---|
| OMIM | 236200 |
| MedlinePlus | 001199 |
| MeSH | D006712 |
In medicine, homocystinuria is an "autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of cystathionine beta-synthase and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall, slender habitus, scoliosis, arachnodactyly, muscle weakness, genu varis, thin blond hair, malar flush, lens dislocations, an increased incidence of mental retardation, and a tendency to develop fibrosis of arteries, frequently complicated by cerebrovascular accidents and myocardial infarction.[1]
References
- ↑ Anonymous (2024), Homocystinuria (English). Medical Subject Headings. U.S. National Library of Medicine.