Homocystinuria

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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

  1. Anonymous (2021), 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]