(MMA) is an autosomal recessive disorder of cobalamin (cbl) metabolism.
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
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