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Article

A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.

Journal of human genetics - 1 Jan 2003

Smeets Roel J P, Smeitink Jan A M, Semmekrot Ben A, Scholte Hans R, Wanders Ronald J A, van den Heuvel Lambert P W J

Abstract excerpt

Mitochondrial beta-oxidation of long-chain fatty acids requires the concerted action of three tightly integrated membrane-bound enzymes (carnitine palmitoyltransferase I and II and carnitine/acylcarnitine translocase) that transport them into mitochondria. Neonatal onset of carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive, often lethal disorder of this transport. We describe a novel...

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Identifiers

PMID: 12560872
DOI: 10.1007/s100380300001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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