Isovaleric Acidemia in a 5 Years of Boy: A Case Report

Abstract

Isovaleric acidemia (IVA) is an autosomal recessive disease of leucine metabolism due to deficiency of isovaleryl-CoA dehydrogenase (IVD). In this case report a five years old boy was admitted to National Institute of Neurosciences and Hospital, Dhaka Bangladesh with the history of fever, cough, vomiting, diarrhea, stupor and extreme sleepiness for 3 days. Second degree consanguinity was documented between the parents. Neurological examination revealed exaggerated reflexes and ankle clonus was present bilaterally. EEG and MRI of brain had normal results. Urine organic acid analysis by gas chromatography-mass spectrometry showed slight increment in concentration of 3 hydroxyisovaleric acid and an elevated concentration of isovalerylglycine. Tandem mass spectrometry of acylcarnitines in dried blood spots showed elevated C5-carnitine isovalerylcarnitine (10.3umol/l). Based on history, clinical examination and laboratory results, a diagnosis of isovaleric academia was ascertained. Patient was treated accordingly with rehydration fluid, correction of metabolic acidosis, antibiotic and supportive care
 Journal of Current and Advance Medical Research 2019;6(1):64-66

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

“…Upper respiratory tract infections or excessive intake of high protein food can trigger the episodes. An acute type manifests as vomiting and severe acidosis during the beginning of life, with subsequent progression to lethargy, convulsion, coma, and, ultimately, death if not treated properly [2]. The characteristic odor of sweaty feet or rancid cheese odor may be present [1].…”