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Article

Inborn errors of ketone body utilization.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2015

Hori Tomohiro, Yamaguchi Seiji, Shinkaku Haruo, Horikawa Reiko, Shigematsu Yosuke, Takayanagi Masaki, Fukao Toshiyuki

Abstract excerpt

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency and mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase or T2) deficiency are classified as autosomal recessive disorders of ketone body utilization characterized by intermittent ketoacidosis. Patients with mutations retaining no residual activity on analysis of expression of mutant cDNA are designated as severe genotype, and patients with at least...

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Identifiers

PMID: 25559898
DOI: 10.1111/ped.12585

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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