Erschienen in:
01.06.2022 | Case Report
Sudden death of a 2-year-old child due to alpha-ketoadipic aciduria
verfasst von:
Hiroki Kondou, Hiroaki Ichioka, Yoshihisa Akasaka, Hidehito Kondo, Hiroshi Ikegaya
Erschienen in:
Forensic Science, Medicine and Pathology
|
Ausgabe 4/2022
Einloggen, um Zugang zu erhalten
Abstract
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 (α-KA). α-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 α-ketoadipic acid.