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Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.

Brain & development - 1 Aug 2015

Vatanavicharn Nithiwat, Yamada Kenji, Aoyama Yuka, Fukao Toshiyuki, Densupsoontorn Narumon, Jirapinyo Pipop, Sathienkijkanchai Achara, Yamaguchi Seiji, Wasant Pornswan

Abstract excerpt

BACKGROUND: Mitochondrial fatty acid oxidation (FAO) disorders are among the causes of acute encephalopathy- or myopathy-like illness. Carnitine-acylcarnitine translocase (CACT) deficiency is a rare FAO disorder, which represent an energy production insufficiency during prolonged fasting, febrile illness, or increased muscular activity. CACT deficiency is caused by mutations of the SLC25A20 gene. Most patients...

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Source

Identifiers

PMID: 25459972
DOI: 10.1016/j.braindev.2014.10.005

Genes

SLC25A20
C2
CPT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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