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Article

Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.

Journal of human genetics - 1 Dec 2013

Fukushima Takao, Kaneoka Hidetoshi, Yasuno Tetsuhiko, Sasaguri Yukari, Tokuyasu Tomoko, Tokoro Kuniko, Fukao Toshiyuki, Saito Takao

Abstract excerpt

Carnitine-acylcarnitine translocase (CACT) and carnitine palmitoyltransferase II (CPT2) are key enzymes for transporting long-chain fatty acids into mitochondria. Deficiencies of these enzymes, which are clinically characterized by life-threatening non-ketotic hypoglycemia and rhabdomyolysis, cannot be distinguished by acylcarnitine analysis performed using tandem mass spectrometry. We had previously reported the...

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Source

Identifiers

PMID: 24088670
DOI: 10.1038/jhg.2013.103

Genes

CPT2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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