A case of methylmalonic and propionic acidemia due to methulmalonyl-CoA carbonylmutase apoenzyme deficiency.
A patient presenting with a deep metabolic acidosis after birth is described. Gas chromatographic analysis of short chain fatty acid and non volatile organic acids revealed the presence of both propionic and methylmalonic acid. In plasma obtained immediately after death the propionic- and methylmalonic acid concentrations were measured after separation of both acids by thin layer chromatography. The propionic acid concentration was about 5 mM while the methylmalonic acid concentration was 2.6 mM. The methylmalonic acid concentration in urine was 6.8 mM. Propionyl-CoA carboxylase activity measured in leucocytes and liver-mitochondria revealed normal values (53 pmoles/min/mg protein and 6.5 nmoles/min/mg protein respectively). 2-14C-Methyl-malonate oxydation in intact fibroblasts was totally blocked in the patient's cells. The methylmalonyl-CoA carbonyl mutase activity was found to be absent in the patient's fibroblasts. Addition of vit. B12 coenzyme to the incubation mixture stimulated 14C-succinate formation in the control cells but not in the patient's cells.
D000138:Acidosis / Q000201:enzymology*; D000596:Amino Acids / Q000378:metabolism; D001051:Apoenzymes; D001059:Apoproteins; D005998:Glycine / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D007535:Isomerases / Q000172:deficiency*; D008297:Male; D008314:Malonates / Q000097:blood*; D008764:Methylmalonic Acid / Q000097:blood*; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency*; D011422:Propionates / Q000097:blood*
D000596:Amino Acids; D001051:Apoenzymes; D001059:Apoproteins; D008314:Malonates; D011422:Propionates; D008764:Methylmalonic Acid; D007535:Isomerases; D008765:Methylmalonyl-CoA Mutase; D005998:Glycine