MMUT / MMAA / MMAB AR unreviewed
Methylmalonic acidaemia
Propionyl-CoA metabolism
Methylmalonyl-CoA mutase (or cobalamin handling)
Enzyme or protein defect
Methylmalonyl-CoA mutase (or cobalamin handling)
Accumulates or becomes deficient
Methylmalonic acid
Key features
Ketoacidosis, hyperammonaemia, failure to thrive
Management
B12 (hydroxocobalamin) trial, protein restriction, carnitine
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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