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

Abstract

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… (More)

Topics

Cite this paper

@article{Kiechl1994MyoglobinuriaAC, title={[Myoglobinuria and carnitine palmitoyltransferase deficiency. Diagnostic procedure and differential diagnosis].}, author={Stefan Kiechl and U Kiechl Kohlendorfer and I. Paetzke and Wolfgang Sperl and Johannes Rainer and Johann Willeit}, journal={Wiener klinische Wochenschrift}, year={1994}, volume={106 6}, pages={174-7} }