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

Hiroki Kondou, Hiroaki Ichioka, Yoshihisa Akasaka, Hidehito Kondo, Hiroshi Ikegaya

Abstract readCase Reports

In one paragraph

Article in Forensic science, medicine, and pathology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed

0.3field-weighted citation impact, top 46% of its field

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0 citing papers in PubMed, 2 citations in OpenAlex.

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5 · Who and what money

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5 authors at 2 institutions in 1 country.

Hiroki KondouDepartment of Forensic Medicine, Graduate School of Medicine, Kyoto Prefectural University of Medicine, Kyoto, 602-8566, Japan.

Hiroaki IchiokaDepartment of Forensic Medicine, Graduate School of Medicine, Kyoto Prefectural University of Medicine, Kyoto, 602-8566, Japan.

Yoshihisa AkasakaDepartment of Forensic Medicine, Graduate School of Medicine, Kyoto Prefectural University of Medicine, Kyoto, 602-8566, Japan.

Hidehito KondoDepartment of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, 605-0981, Japan.

Hiroshi IkegayaDepartment of Forensic Medicine, Graduate School of Medicine, Kyoto Prefectural University of Medicine, Kyoto, 602-8566, Japan. ikegaya@koto.kpu-m.ac.jp.ORCID http://orcid.org/0000-0002-2380-7558

Kyoto Prefectural University of Medicine · JPKyoto first Red Cross hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Amino Acid Metabolism, Inborn ErrorsLysineAdipatesChild, PreschoolDeath, SuddenHumansMaleTryptophanAdipatesalpha-ketoadipic acidLysineTryptophanAlpha-ketoadipic aciduriaEpileptic seizureSudden death

Identifiers

PMID35648288

DOI10.1007/s12024-022-00483-4

OpenAlexW4281705718

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.