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Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood.

Molecular and cellular biochemistry - 1 Sept 1997

Kaufmann P, el-Schahawi M, DiMauro S

Abstract excerpt

Four missense mutations have been reported to be associated with the typical, adult form of carnitine palmitoyltransferase II (CPT II) deficiency: Three amino acid substitutions (R631C. P50H and D553N) appear to be rare, while the S113L mutation was found to be common in a group of European patients with CPT II deficiency. We analyzed genomic DNA from 20 American patients with recurrent episodes of myoglobinuria...

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PMID: 9309694

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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