RECURRENT MYOGLOBINURIA DUE TO CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - EXPRESSION OF THE MOLECULAR PHENOTYPE IN CULTURED MUSCLE-CELLS

Carnitine palmitoyltransferase II deficiency (CPT II) is an autosomal recessive disorder and the most frequent cause of hereditary myoglobin uria. We report the case of a young man who presented a severe fever-i nduced episode of rhabdomyolysis and myoglobinuria resulting in acute renal failure. Cultured skeletal muscle cells have been used for the b iochemical and molecular characterization of the defect in this patien t. Immunoblot analysis revealed reduced steady-state level of CPT II p rotein. A PCR-based method detected the common Ser1 13Leu substitution only in one allele, suggesting that the patient is a compound heteroz ygote for this common mutation and a different as yet unidentified mut ation.