Isovaleric acidemia

Isovaleric acidemia is a rare autosomal recessive organic acid disorder caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase, which impairs the normal catabolism of the branched-chain amino acid leucine This enzymatic defect predominantly manifests in neonates and young children, leading to toxic systemic accumulations of isovaleric acid and associated metabolites Pathophysiologically and clinically, the condition presents along a spectrum ranging from life-threatening...

Isovaleric acidemia is a rare autosomal recessive organic acid disorder caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase, which impairs the normal catabolism of the branched-chain amino acid leucine

This enzymatic defect predominantly manifests in neonates and young children, leading to toxic systemic accumulations of isovaleric acid and associated metabolites

This enzymatic defect predominantly manifests in neonates and young children, leading to toxic systemic accumulations of isovaleric acid and associated metabolites

Pathophysiologically and clinically, the condition presents along a spectrum ranging from life-threatening neonatal metabolic crises to chronic intermittent decompensations typically provoked by infection, fasting, or increased protein intake

Hallmark features include severe metabolic acidosis, hyperammonemia, vomiting, lethargy, encephalopathy, and a distinctive odor resembling sweaty feet during acute decompensation episodes