Homocystinuria: Difference between revisions
Jump to navigation
Jump to search
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...) |
mNo edit summary |
||
| (2 intermediate revisions by one other user not shown) | |||
| Line 1: | Line 1: | ||
{{subpages}} | {{subpages}} | ||
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> | {{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><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/>[[Category:Suggestion Bot Tag]] | ||
Latest revision as of 06:00, 29 August 2024
| 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]