Sudden death of a 2-year-old child due to alpha-ketoadipic aciduria

Alpha-ketoadipic acid is one of the metabolic intermediates of lysine and tryptophan, and it is known as the biochemical hallmark of alpha-ketoadipic aciduria (alpha-KA). alpha-KA is a rare autosomal recessive disorder. Its pathophysiology is reduced alpha-ketoadipic acid dehydrogenase activity, and that makes it difficult to metabolize lysine and tryptophan. The symptoms of this disease are multiple, e.g., psychomotor retardation, epilepsy, and ataxia, and it can even be asymptomatic. We present a case of sudden death in a 2-year-old boy with alpha-ketoadipic aciduria. Postmortem computed tomography (CT) and autopsy were performed to elucidate the cause of death. No obvious lesions could be identified except for a marked fatty liver. Urinalysis showed elevated excretion of alpha-ketoadipic acid.

Automated summary

Alpha-ketoadipic acid is a metabolic intermediate of lysine and tryptophan and is associated with alpha-ketoadipic aciduria. Alpha-ketoadipic aciduria is a rare genetic disease characterized by metabolic abnormalities of lysine and tryptophan. This case report presents the sudden death of a 2-year-old boy with alpha-ketoadipic aciduria, with autopsy findings of fatty liver and urinalysis confirming increased excretion of alpha-ketoadipic acid.