Methylmalonic aciduria with homocystinuria. 1984

A Ribes, and M A Vilaseca, and P Briones, and A Maya, and J Sabater, and P Pascual, and L Alvarez, and J Ros, and E Gonzalez Pascual

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D008314 Malonates Derivatives of malonic acid (the structural formula CH2(COOH)2), including its salts and esters.
D008764 Methylmalonic Acid A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA. Acid, Methylmalonic
D006712 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) CBS Deficiency,Cystathionine beta-Synthase Deficiency Disease,Cystathionine Beta Synthase Deficiency,Deficiency Disease, Cystathionine beta-Synthase,CBS Deficiencies,Cystathionine beta Synthase Deficiency Disease,Deficiencies, CBS,Deficiency Disease, Cystathionine beta Synthase,Deficiency, CBS
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006879 Hydroxocobalamin Injectable form of VITAMIN B 12 that has been used therapeutically to treat VITAMIN B 12 DEFICIENCY. Hydroxycobalamin,Hydroxo-Cobalamin

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