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Isovaleric acidemia (IVA) is an autosomal recessive disease of the leucine metabolism due to a deficiency of isovaleryl-CoA dehydrogenase (IVD). We report the case of a six-month-old girl admitted with a seven-day history of fever, cough, stridor, vomiting, and respiratory distress. Second-degree consanguinity was documented between the parents. Urine organic acid analysis by gas chromatography-mass spectrometry showed marked excretion of 3-hydroxybutyric acid along with moderate excretion of 3- hydroxy-isovaleric acid. Isovaleric acidemia was diagnosed based on history, examination, and laboratory evaluation. The patient managed with fluid resuscitation, correction of her metabolic acidosis, antibiotics, and supportive care.

Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism