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Article

Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency.

Journal of human genetics - 1 Jan 2000

Ogawa A, Yamamoto S, Kanazawa M, Takayanagi M, Hasegawa S, Kohno Y

Abstract excerpt

Carnitine/acylcarnitine translocase (CACT) transports acylcarnitines into mitochondria in exchange for free carnitine, and is therefore an essential component within the fatty acid beta-oxidation pathway. CACT deficiency is an autosomal recessive disease caused by a mutation of the CACT gene. We have identified two novel mutations of the CACT gene in a patient with CACT deficiency. The first, a deletion mutation...

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PMID: 10697964
DOI: 10.1007/s100380050010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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