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Article

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.

Clinical biochemistry - 1 Mar 2003

Tang Nelson L S, Hui Joannie, Yong Collin K K, Wong Lawrence T K, Applegarth Derek A, Vallance Hilary D, Law L K, Fung Simon L M, Mak Tony W L, Sung Y M, Cheung K L, Fok T F

Abstract excerpt

OBJECTIVE: Multiple carboxylase deficiency (MCD, MIM:253270) is a common organic aciduria and caused by deficiency of either biotinidase or holocarboxylase synthetase (HLCS; EC 6.3.4.10). Patients commonly present during early infancy with acute metabolic derangements and severe metabolic acidosi...

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Identifiers

PMID: 12633764
DOI: 10.1016/s0009-9120(02)00432-0

Genes

HLCS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12633764-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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