πŸ“˜ Isolated Methylmalonic Acidemias

Nelson Textbook of Pediatrics 22nd Ed β€” Section 105.6. Methylmalonyl-CoA mutase deficiency (mut0, mut-), cblA, cblB, cblD-MMA. Metabolic acidosis, hyperammonemia, ketosis, C3-carnitine elevation. Treatment: B12 (cobalamin) responsiveness, carnitine, protein restriction, liver/kidney transplantation.

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πŸ“‹ 30 Clinical Scenarios β€” Isolated Methylmalonic Acidemias (FCPS level)

πŸ“‡ High‑Yield Review Cards (Methylmalonic Acidemias)

🩺 Symptom‑Based Approach: Suspected Methylmalonic Acidemia

Select a presentation for diagnostic clues.

πŸ“‹ Emergency & Long-term Management of Isolated MMA

    ⚑ Reflex Prompts β€” Clinical Decisions in Methylmalonic Acidemia

    πŸ“– Summary: Isolated Methylmalonic Acidemias β€” Nelson 22nd Ed