Mitochondrial Disease — RACP Paediatrics MCQ

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HardGenetics & MetabolicMitochondrial DiseaseRACP Paediatrics

A 6-month-old has lactic acidosis, FTT, hypotonia, cardiomyopathy. Muscle biopsy shows ragged red fibres. Category?

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Correct answer: C — Mitochondrial respiratory chain disorder

Lactic acidosis + cardiomyopathy + ragged red fibres = mitochondrial disease.

Reference: RACP – 2024 – Paediatric Curriculum: Metabolic Medicine