Enzyme or protein defect
Carnitine palmitoyltransferase II
Accumulates or becomes deficient
Long-chain acylcarnitines
Key features
Adult form: rhabdomyolysis after prolonged exercise or fasting
Management
Avoid triggers; MCT diet
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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