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Article

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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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 4 Sept 2026. Prepared record publication-25459972-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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