Samples obtained from the original NBS specimens of confirmed cases with [beta]-cystathionine synthase deficiency (n = 4), propionyl-CoA carboxylase
deficiency (n = 2), methylmalonyl-CoA mutase deficiency (n = 4), Cbl C deficiency (n = 7), various remethylation disorders [methylenetetrahydrofolate reductase (MTHFR), n = 3; Cbl G, n = 3; Cbl D variant 1, n = 1], and maternal vitamin [B.
Patients are deficient in propionyl-CoA carboxylase
(PCC), an enzyme that utilizes certain amino acids found in protein.
Normally propionyl-CoA is metabolized to methylmalonyl-CoA by the action of propionyl-CoA carboxylase
(PCC), but if the metabolite is in excess the propionyl species is released from the mitochondrion after conversion by carnitine palmitoyl transferase II to the corresponding acylcarnitine (Fig.
PA results from a deficiency of mitochondrial propionyl-CoA carboxylase
, an enzyme that requires biotin as a cofactor and converts propionyl-CoA to D-methylmalonyl-CoA.
deficiency with overflow of metabolites of isoleucine catabolism at all levels.
PA is caused by deficiency of propionyl-CoA carboxylase
, whereas MMA results from deficiency of either methylmalonyl-CoA mutase or defects in the production of adenosylcobalamin.
Pyroglutamic aciduria in propionyl-CoA carboxylase