Hostname: page-component-745bb68f8f-v2bm5 Total loading time: 0 Render date: 2025-01-23T20:44:59.445Z Has data issue: false hasContentIssue false
  • English
  • Français

Cold Induced Rhabdomyolysis in Carnitine Palmyityl Transferase Deficiency

Published online by Cambridge University Press:  18 September 2015

A.K.W. Brownell ,
D.L. Severson ,
C.D. Thompson  and
T. Fletcher
A.K.W. Brownell*
Affiliation:
Divisions of Medicine, Pathology, and Pharmacology, Faculty of Medicine, The University of Calgary, Calgary, Alberta
D.L. Severson
Affiliation:
Divisions of Medicine, Pathology, and Pharmacology, Faculty of Medicine, The University of Calgary, Calgary, Alberta
C.D. Thompson
Affiliation:
Divisions of Medicine, Pathology, and Pharmacology, Faculty of Medicine, The University of Calgary, Calgary, Alberta
T. Fletcher
Affiliation:
Divisions of Medicine, Pathology, and Pharmacology, Faculty of Medicine, The University of Calgary, Calgary, Alberta
*
University of Calgary, Faculty of Medicine, 2920-24 Ave. N.W., Calgary T2N 1N4, Canada
Rights & Permissions [Opens in a new window]

Summary:

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

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 precipitate rhabdomyolysis in this patient.

Type
Case Report
Information
Canadian Journal of Neurological Sciences , Volume 6 , Issue 3 , August 1979 , pp. 367 - 370
Copyright
Copyright © Canadian Neurological Sciences Federation 1979

References

Banks, W.J., Dimauro, S., Bonilla, E., Capuzzi, D.M. and Rowland, L.P. (1975). A disorder of Muscle Lipid Metabolism and Myoglobinuria. The New England Journal of Medicine, 292:9, 443–449.CrossRefGoogle Scholar
Carroll, J.E., Brooke, M.H., Devivo, D.C, Kaiser, K.K. and Hagberg, J.H. (1978). Biochemical and Physiologic Consequences of Carnitine Palmityl Transferase Deficiency. Muscle and Nerve, 1:2, 103–110.CrossRefGoogle Scholar
Cumming, W.J.K., Hardy, M., Hudgson, P. and Walls, J. (1976). Carnitine Palmityl Transferase Deficiency. Journal of the Neurological Sciences, 30: 247–258.CrossRefGoogle ScholarPubMed
Diconato, S., Cornelio, F.Pacini, L., Peluchetti, D., Rimoldi, M. and Spreafico, S. (1978). Muscle Carnitine Palmityl Deficiency: A Case with Enzyme Deficiency in Cultured Fibroblasts. Annals of Neurology, 4:5, 465–467.CrossRefGoogle Scholar
Dimauro, S. and Melis Dimauro, P., (1973). Muscle Carnitine Palmityltransfer-ase Deficiency and Myoglobinuria. Science, 182, 929–931.CrossRefGoogle ScholarPubMed
Engle, A.G. and Dale, A.J.D. (1968). Autophagic Glycogenosis of Late Onset with Mitochondrial Abnormalities. Mayo Clinic Proceedings, 43, 233–279.Google Scholar
Herman, J. and Nadler, H.L. (1977). Recurrent Myoglobinuria and Muscle Carnitine Palmityl Transferase Deficiency. The Journal of Pediatrics, 91:2, 247–250.CrossRefGoogle Scholar
Hostetler, K.Y., Hoppel, C.L., Romine, J.S., Sipe, J.C, Gross, S.R. and Higginbottom, P.A. (1978). Partial Deficiency of Muscle Carnitine Palmityl Transferase with Normal Ketone Production. The New England Journal of Medicine, 298:10, 553–557.CrossRefGoogle Scholar
Johnson, R.E., Passmore, R. and Sargent, F. (1961). Multiple Factors in Experimental Ketosis. Archives of Internal Medicine, 107, 111–118.CrossRefGoogle Scholar
Lowry, O.H., Rosenbrough, N.J., Farr, A.L. and Randall, R.J. (1951). Protein Measurement with the Folin Phenol Reagent. Journal of Biological Chemistry, 193, 265–275.CrossRefGoogle ScholarPubMed
Norum, K.R. (1964). Palmityl-CoA: Carnitine Palmityltransferase. Biochemicaet Bio-physica Acta, 89, 95–108.Google ScholarPubMed
Patten, B.M., Wood, J., Howell, R.R., Heferan, P. and Dimauro, S. (1978). Carnitine Palmityl Transferase Deficiency in Two Brothers with Recurrent Rhabdo-myolysis, Neurology, 4:28, 399.Google Scholar
Reza, M.J., Kar, N.C, Pearson, C.M. and Kark, P. (1978). Recurrent Myoglobinuria due to Muscle Carnitine Palmityl Transferase Deficiency. Annals of Internal Medicine, 88: 610–615.CrossRefGoogle ScholarPubMed
Rowland, L.P. and Penn, A.S. (1972). Myoglobinuria: Medical Clinics of North America, 56, 1233–1256.CrossRefGoogle ScholarPubMed
Thompson, G.E. (1977). Physiological Effects of Cold Exposure. In Robertshaw, D. (Editor); International Review of Physiology, Environmental Physiology II, Volume 15, University Park Press, Baltimore, 45Google Scholar