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Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report.

BMC medical genetics - 29 Jul 2020

Zheng Zhenzhu, Yuan Gaopin, Zheng Minyan, Lin Yiming, Zheng Faming, Jiang Mengyi, Zhu Lin, Fu Qingliu

Abstract excerpt

BACKGROUND: Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several biotin-dependent carboxylases and presents with metabolic ketoacidosis and skin lesions. CASE PRESENTATION: In this paper, we report a Chinese Han pedigree with HLCS deficiency diagnosed by using next-generation sequencing and validated with Sanger sequencing of the HLCS and...

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Identifiers

PMID: 32727382
DOI: 10.1186/s12881-020-01080-4
PMCID: PMC7388215

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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