Categories
  • Suggestion Bot Tag
    •   Encyclosphere.org ENCYCLOREADER
      supported by EncyclosphereKSF

    Homocystinuria

    From Citizendium - Reading time: 1 min
    This article is a stub and thus not approved.
    		 Main Article
    		 Discussion
    		Related Articles  [?]
    		Bibliography  [?]
    		External Links  [?]
    		Citable Version  [?]
    		 
    https://en.citizendium.org/wiki/index.php?title=Homocystinuria&printable=yes
    This editable Main Article is under development and subject to a disclaimer.
    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[edit]

    1. ↑ Anonymous (2025), Homocystinuria (English). Medical Subject Headings. U.S. National Library of Medicine.
    2. ↑ 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]
    This article is licensed under CC BY-SA 3.0.
    Original source: https://citizendium.org/wiki/Homocystinuria
    Status: article is cached
    Encyclosphere.org EncycloReader is supported by the EncyclosphereKSF