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, (2009) 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.
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