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Article

Analysis of genetic mutation distribution and metabolic characteristics in patients with primary carnitine deficiency from the Ganzhou area, China.

Clinica chimica acta; international journal of clinical chemistry - 15 Mar 2026

Tu Xiangwen, Zhang Feng, Chen Junkun, Xie Chunlian

Abstract excerpt

OBJECTIVE: To investigate genetic and metabolic profiles in primary carnitine deficiency (PCD) patients from Ganzhou. METHODS: Newborns screened in Ganzhou were included. Free carnitine (C0) and acylcarnitines were quantified using tandem mass spectrometry (MS/MS). Positive cases underwent SLC22A5 gene analysis using next-generation and sanger sequencing. Clinical data, genetic results, and amino...

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Cardiomyopathies
Carnitine
China
Hyperammonemia
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscular Diseases

Solute Carrier Family 22 Member 5

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Identifiers

PMID: 41620002
DOI: 10.1016/j.cca.2026.120873

Genes

SLC22A5
C2
C3
C5
C6
TYR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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