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.
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References in periodicals archive ?
Keywords: Methylmalonic aciduria, Methylmalonyl-CoA mutase deficiency, Cobalamin related remethylation disorders, Vitamin B 12 deficiency, Pakistan.
However, urine organic acid analysis is still required to differentiate between PA and all types of methylmalonic aciduria, which is also detected by increased C3.
Naushad, "Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: a south Indian experience," Clinical Biochemistry, vol.
Methylmalonic aciduria and homocystinuria, cobalamin C type (cblC) (OMIM 277400) is likely the most common of such disorders and is caused by biallelic mutations in the MMACHC gene (Lerner-Ellis et al.
(2) In children, for example, mutations in the gene encoding the methylmalonic aciduria and homocystinuria type C (MMACHC) have been identified that result in abnormal cobalamin C metabolism, termed cobalamin C disease, which in turn has been associated with endothelial dysfunction, platelet activation, coagulation cascade activation, and increased expression of tissue factor.
Chronic pancreatitis in branched-chain organic acidurias-a case of methylmalonic aciduria and an overview of the literature.
Tandem mass spectrometry was found to be normal and mild methylmalonic aciduria was found in urinary organic acid tests.
Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin [B.sub.12]-deficient breast-fed infant of a strict vegetarian.
Following laboratory investigations were included in the screening protocol - dicts test for reducing substances, Ferric chloride test for Phenylketonuria, Dintrophenylhydrazine test for alpha keto acids, Nitrosonaphthol test for tyrosine, Para nitroaniline test for methylmalonic aciduria, Cyanide nitroprusside test for cysteine and homocysyteine, Ammoniacal silver nitrate test for homocysteine, Thin layer chromatography for amino acids.