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Article

Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report.

Italian journal of pediatrics - 7 Jul 2021

Gan Yi, Yu Fei, Fang Haining

Abstract excerpt

BACKGROUND: Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare mitochondrial fatty acid oxidation (FAO) disorder that results in hypoketotic hypoglycemia and hepatic encephalopathy. It is caused by mutation in CPT1A. To date, only two symptomatic cases of CPT1A deficiency have been reported in China. CASE PRESENTATION: A newborn male, without any disease-related clinical manifestations, was diagnosed...

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Identifiers

PMID: 34233743
DOI: 10.1186/s13052-021-01094-5
PMCID: PMC8261918

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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