(4)###Methyl malonate, 2 Methyl gluconate, 3 hydroxy propionate
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.
(MMA) is an autosomal recessive disorder of cobalamin (cbl) metabolism.
Naushad, "Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria
: a south Indian experience," Clinical Biochemistry, vol.
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.