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Article

Analysis of the clinical phenotype and genotype features of 5 cases of beta-ketothiolase deficiency.

BMC pediatrics - 4 Feb 2026

Jin Jing-Lu, Wu Di, Ding Yuan

Abstract excerpt

BACKGROUND: Beta-Ketothiolase deficiency (BKTD) is a rare congenital inherited metabolic disorder associated with defects in the catabolism of isoleucine. This article introduces the clinical phenotypes and genetic variation characteristics of 5 pediatric patients with BKTD. RESULTS: We retrospectively analyzed the clinical manifestations, laboratory parameters and genetic testing data of 5 pediatric patients...

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Identifiers

PMID: 41639795
DOI: 10.1186/s12887-026-06563-6
PMCID: PMC12958503

Genes

ACAT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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