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[Myoglobinuria and carnitine palmitoyltransferase deficiency. Diagnostic procedure and differential diagnosis].

Wiener klinische Wochenschrift - 1 Jan 1994

Kiechl S, Kohlendorfer U, Paetzke I, Sperl W, Rainer J, Willeit J

Abstract excerpt

Carnitine palmitoyltransferase (CPT) deficiency is the most common metabolic cause of recurrent myoglobinuria. We describe five patients with CPT deficiency who were recruited during a 24-months period. Phenotypic expression ranged from mild myalgia without myoglobinuria to severe exercise-induced attacks and a lethal course. The pathophysiological basis of the clinical heterogeneity is discussed. The diagnostic...

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PMID: 8197749

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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