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)

Descriptor ID	D006712
MeSH 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
Concept/Terms	Homocystinuria Homocystinuria Cystathionine beta-Synthase Deficiency Disease Cystathionine beta-Synthase Deficiency Disease Cystathionine beta Synthase Deficiency Disease Deficiency Disease, Cystathionine beta-Synthase Deficiency Disease, Cystathionine beta Synthase CBS Deficiency CBS Deficiencies Deficiencies, CBS Deficiency, CBS

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