Homocystinuria: Difference between revisions
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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><ref name="pmid3872065">{{cite journal |author=Mudd SH, Skovby F, Levy HL, ''et al'' |title=The natural history of homocystinuria due to cystathionine beta-synthase deficiency |journal=Am. J. Hum. Genet. |volume=37 |issue=1 |pages=1–31 |year=1985 |month=January |pmid=3872065 |pmc=1684548 |doi= |url= |issn=}}</ref> | ||
==References== | ==References== | ||
<references/> | <references/> | ||
Latest revision as of 00:35, 17 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][2]
References
- ↑ Anonymous (2024), Homocystinuria (English). Medical Subject Headings. U.S. National Library of Medicine.
- ↑ Mudd SH, Skovby F, Levy HL, et al (January 1985). "The natural history of homocystinuria due to cystathionine beta-synthase deficiency". Am. J. Hum. Genet. 37 (1): 1–31. PMID 3872065. PMC 1684548. [e]