About The Medical Condition Cystathionine beta-Synthase Deficiency Disease
Find the definition of the medical term Cystathionine beta-Synthase Deficiency Disease. Cystathionine beta-Synthase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Cystathionine beta-Synthase Deficiency Disease
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What's The Definition Of The Medical Condition Cystathionine beta-Synthase Deficiency Disease?
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. (From Adams et al., Principles of Neurology, 6th ed, p979)
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