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