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Article

[CPT2 gene mutation analysis and prenatal diagnosis in a family with carnitine palmitoyltransferase II deficiency].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Dec 2016

Tan Jian-Qiang, Chen Da-Yu, Li Wu-Gao, Li Zhe-Tao, Huang Ji-Wei, Yan Ti-Zhen, Cai Ren

Abstract excerpt

This study aimed to identify the type of carnitine palmitoyltransferase 2 (CPT2) gene mutation in the child with carnitine palmitoyltransferase II (CPT II) deficiency and her parents and to provide the genetic counseling and prenatal diagnosis for the family members. As the proband, a 3-month-old female baby was admitted to the hospital due to fever which had lasted for 8 hours. Tandem mass spectrometric analysis...

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Share to Carnitine O-Palmitoyltransferase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27974123
PMCID: PMC7403082

Genes

CPT2

Variants

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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