methylmalonic aciduria

meth·yl·ma·lon·ic ac·i·du·ri·a

(meth'il-mă-lon'ik as'i-dyūrē-ă), Excretion of excessive amounts of methylmalonic acid in urine owing to deficient activity of methylmalonyl-CoA mutase or deficient cobalamin reductase. Two types occur: an inborn error of metabolism resulting in severe ketoacidosis shortly after birth, with long-chain urinary ketones; autosomal recessive inheritance, caused by mutations in the methylmalonyl-CoA mutase gene (MCM) on chromosome 6p [MIM*251000]; acquired, a type due to vitamin B₁₂ deficiency [MIM*251110] due to defective synthesis of adenosylcobalamin.

单词	methylmalonic aciduria
释义	methylmalonic aciduria meth·yl·ma·lon·ic ac·i·du·ri·a (meth'il-mă-lon'ik as'i-dyūrē-ă), Excretion of excessive amounts of methylmalonic acid in urine owing to deficient activity of methylmalonyl-CoA mutase or deficient cobalamin reductase. Two types occur: an inborn error of metabolism resulting in severe ketoacidosis shortly after birth, with long-chain urinary ketones; autosomal recessive inheritance, caused by mutations in the methylmalonyl-CoA mutase gene (MCM) on chromosome 6p [MIM251000]; acquired, a type due to vitamin B₁₂ deficiency [MIM251110] due to defective synthesis of adenosylcobalamin.
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