Homocystinuria
Synonyms
CBS Deficiencies
CBS Deficiency
Cystathionine Beta Synthase Deficiency
Cystathionine beta Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease
Deficiencies, CBS
Deficiency Disease, Cystathionine beta Synthase
Deficiency Disease, Cystathionine beta-Synthase
Deficiency, CBS
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)
See Also