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Homocystinuria

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 varus, 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. (From Adams et al., Principles of Neurology, 6th ed, p979)

Year introduced: 1969(1967)

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Tree Number(s): C10.228.140.163.100.365, C16.320.565.100.480.500, C16.320.565.189.365, C17.300.428, C18.452.132.100.365, C18.452.648.100.480.500, C18.452.648.189.365

MeSH Unique ID: D006712

Entry Terms:

  • Cystathionine beta-Synthase Deficiency Disease
  • Cystathionine beta Synthase Deficiency Disease
  • Cystathionine Beta Synthase Deficiency
  • Deficiency Disease, Cystathionine beta-Synthase
  • Deficiency Disease, Cystathionine beta Synthase
  • CBS Deficiency
  • CBS Deficiencies
  • Deficiencies, CBS
  • Deficiency, CBS

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