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Article

Carnitine palmitoyltransferase deficiencies.

Molecular genetics and metabolism - 1 Dec 1999

Bonnefont J P, Demaugre F, Prip-Buus C, Saudubray J M, Brivet M, Abadi N, Thuillier L

Abstract excerpt

Carnitine palmitoyltransferase (CPT) deficiencies are common disorders of mitochondrial fatty acid oxidation. The CPT system is made up of two separate proteins located in the outer- (CPT1) and inner- (CPT2) mitochondrial membranes. While CPT2 is a ubiquitous protein, two tissue-specific CPT1 isoforms-the so-called "liver" (L) and "muscle" (M) CPT1s-have been shown to exist. Amino acid and cDNA nucleotide...

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Source

Identifiers

PMID: 10607472
DOI: 10.1006/mgme.1999.2938

Genes

CPT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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