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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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.
In this case, sequencing of the methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA) gene, which encodes the cblA protein, revealed 2 compound heterozygous mutations, C433C>T and c.
Our findings also suggest that some chemicals modulate pathways associated with vitamin metabolism (metabolism of vitamins and cofactors-mod3 in RLV) in hepatocytes, in particular those associated with the inherited metabolic disorders methylmalonic aciduria and homocystinuria.
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.
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.
Also high-throughput ligand screening revealed a compound that significantly increased the mutant enzyme activity in methylmalonic aciduria and did not act as an inhibitor of the purified enzyme protein.
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
The disorders being screened include thalassemia, sickle cell anemia, homocystinuria, phenylketonuria, glutaric aciduria and methylmalonic aciduria.
Their work led to the discovery of a new gene, ABCD4, associated with the transport of B12 and responsible for a new disease called cblJ combined homocystinuria and methylmalonic aciduria (cblJ-Hcy-MMA).