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

Article

[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-induce...

Topics

Adult
Biopsy
Carnitine O-Palmitoyltransferase
Diagnosis, Differential
Female
Humans
Male
Muscles
Myoglobinuria
Phenotype

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