Cold Induced Rhabdomyolysis in Carnitine Palmyityl Transferase Deficiency
Open Access
- 1 August 1979
- journal article
- research article
- Published by Cambridge University Press (CUP) in Canadian Journal of Neurological Sciences
- Vol. 6 (3) , 367-370
- https://doi.org/10.1017/s0317167100024033
Abstract
A case of carnitine palmityl transferase deficiency in skeletal muscle is described. The usual symptoms associated with this disease (recurrent muscle cramps or pain and pigmenturia) were not observed, but sudden exposure to cold precipitated rhabdomyolysis in this patient.This publication has 13 references indexed in Scilit:
- Muscle carnitine palmityltransferase deficiency: A case with enzyme deficiency in cultured fibroblastsAnnals of Neurology, 1978
- Partial Deficiency of Muscle Carnitine Palmitoyltransferase with Normal Ketone ProductionNew England Journal of Medicine, 1978
- Biochemical and physiologic consequences of carnitine palmityltransferase deficiencyMuscle & Nerve, 1978
- Recurrent myoglobinuria and muscle carnitine palmityltransferase deficiencyThe Journal of Pediatrics, 1977
- Carnitine-palmityl-transferase deficiencyJournal of the Neurological Sciences, 1976
- A Disorder of Muscle Lipid Metabolism and MyoglobinuriaNew England Journal of Medicine, 1975
- Muscle Carnitine Palmityltransferase Deficiency and MyoglobinuriaScience, 1973
- MyoglobinuriaMedical Clinics of North America, 1972
- Multiple Factors in Experimental Human KetosisArchives of internal medicine (1960), 1961