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Article

Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.

Molecular genetics and metabolism - 1 Aug 2011

Wang Guo-li, Wang Jing, Douglas Ganka, Browning Marsha, Hahn Sihoun, Ganesh Jaya, Cox Sarah, Aleck Kirk, Schmitt Eric S, Zhang Wei, Wong Lee-Jun C

Abstract excerpt

Carnitine-acylcarnitine translocase (CACT) deficiency is a rare autosomal recessive disease of fatty acid oxidation, mainly affecting long chain fatty acid utilization. The disease usually presents at neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy. Definitive diagnosis of CACT deficiency by...

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PMID: 21605995
DOI: 10.1016/j.ymgme.2011.05.001

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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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