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Glutaric aciduria type I — RACP Paediatrics MCQ

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HardNeurologyGlutaric aciduria type IRACP Paediatrics

A 10-month-old presents with macrocephaly, developmental regression, dystonia, and acute encephalopathic episodes triggered by illness. MRI shows widened Sylvian fissures (frontotemporal atrophy) and subdural collections. Urine organic acids show elevated glutaric acid and 3-hydroxyglutaric acid. What is the most likely diagnosis?

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Correct answer: C — Glutaric aciduria type I

Macrocephaly with frontotemporal atrophy (widened Sylvian fissures), dystonia, developmental regression, acute encephalopathic crises, and elevated glutaric/3-hydroxyglutaric acid in urine is glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency). It is detected on newborn screening in Australia. Treatment includes carnitine supplementation, lysine-restricted diet, and aggressive management during illness to prevent metabolic crises.

Reference: RACP Paediatric Curriculum – Metabolic/Neurology; RCH Melbourne – 2023