Isovaleric Acidemia in a Neonate Presenting as Sepsis and Encephalopathy: A Case Report

Abstract

Isovaleric acidemia (IVA) is an autosomal recessive inherited metabolic disease caused by the deficiency of isovaleryl-CoA dehydrogenase (IVD). The symptoms of IVA mimic sepsis, delaying the diagnosis. It can progress to coma and death if untreated. Thrombocytopenia and/or pancytopenia and hyperammonemia are the notable metabolic abnormalities. We report a neonate who presented to us with thrombocytopenia and encephalopathy. Tandem mass spectrometry was suggestive of IVA. Clinical exome sequencing identified a homozygous mutation in the IVD gene at codon 320 (p.Gln320His). The infant responded to specific treatments for IVA, such as carnitine and glycine supplementation. The infant attained appropriate development despite prolonged encephalopathy.