单词 | Deficiency Disease,Cystathionine beta Synthase |
释义 | Deficiency Disease,Cystathionine beta Synthase《英文msh词典》Deficiency Disease,Cystathionine beta Synthase [入口词] Deficiency Disease,Cystathionine beta Synthase [主题词] Homocystinuria [英文释义] 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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