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Article

Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.

Annals of neurology - 1 Jan 2005

Ørngreen Mette C, Dunø Morten, Ejstrup Rasmus, Christensen Ernst, Schwartz Marianne, Sacchetti Massimo, Vissing John

Abstract excerpt

Patients with the myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency typically experience muscle pain, cramps, and myoglobinuria during prolonged exercise. It has been suggested that carriers of CPT2 gene mutations also may have milder clinical symptoms, but fatty acid oxidation (FAO) has never been investigated in vivo in this group. We studied fuel utilization by indirect calorimetry and...

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Source

Identifiers

PMID: 15622536
DOI: 10.1002/ana.20320

Genes

CPT2

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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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