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Article

Biochemical and genetic characteristics of 40 neonates with carnitine deficiency.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Oct 2020

Zhou Xiaoqiang, Teng Yanling, Lin-Peng Siyuan, Li Zhuo, Wu Lingqian, Liang Desheng

Abstract excerpt

OBJECTIVES: Primary carnitine deficiency (PCD) is a rare fatty acid metabolism disorder that can cause neonatal death. This study aims to analyze carnitine levels and detect SLC22A5 gene in newborns with carnitine deficiency, to provide a basis for early diagnosis of PCD, and to explore the relationship between carnitine in blood and SLC22A5 genotype. METHODS: A total of 40 neonates with low free carnitine (C0<10...

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PMID: 33268576
DOI: 10.11817/j.issn.1672-7347.2020.190241

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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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