Abstract
The authors studied a 53 year old woman and her 22 year old son with episodes of paroxysmal muscle cramps and dark urines lasting several hours related to high fat diet and strenuous physical exercise beginning on both at age 14 years. The father, paternal uncle, paternal grandfather and another son of the mother also had paroxysmal muscle cramps. The two studied cases showed normal findings for physical evaluation, blood lactate after ischemic exercise, and muscle histology (light and electron microscopy). The serum creatine kinase was elevated in the son and normal in the mother. However, 72 hour fasting significantly raised the serum creatine kinase level in both cases. Plasma concentration of ketone bodies and acid soluble acyl-carnitine increased normally with prolonged fasting. The biochemical evaluation of the muscle tissue revealed intact anaerobic glycolysis and normal glycogen content but combined partial deficiency of muscle carnitine palmitoyltransferase and carnitine in both cases.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Angelini C. Lipid storage myopathies. A review of metabolic defect and of treatment. J Neurol. 1976 Nov 26;214(1):1–11. doi: 10.1007/BF00313485. [DOI] [PubMed] [Google Scholar]
- Bank W. J., DiMauro S., Bonilla E., Capuzzi D. M., Rowland L. P. A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase. N Engl J Med. 1975 Feb 27;292(9):443–449. doi: 10.1056/NEJM197502272920902. [DOI] [PubMed] [Google Scholar]
- Brass E. P., Hoppel C. L. Carnitine metabolism in the fasting rat. J Biol Chem. 1978 Apr 25;253(8):2688–2693. [PubMed] [Google Scholar]
- Cahill G. F., Jr, Herrera M. G., Morgan A. P., Soeldner J. S., Steinke J., Levy P. L., Reichard G. A., Jr, Kipnis D. M. Hormone-fuel interrelationships during fasting. J Clin Invest. 1966 Nov;45(11):1751–1769. doi: 10.1172/JCI105481. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Carroll J. E., Brooke M. H., DeVivo D. C., Kaiser K. K., Hagberg J. M. Biochemical and physiologic consequences of carnitine palmityltransferase deficiency. Muscle Nerve. 1978 Mar-Apr;1(2):103–110. doi: 10.1002/mus.880010203. [DOI] [PubMed] [Google Scholar]
- Crabtree B., Newsholme E. A. The activities of lipases and carnitine palmitoyltransferase in muscles from vertebrates and invertebrates. Biochem J. 1972 Dec;130(3):697–705. doi: 10.1042/bj1300697. [DOI] [PMC free article] [PubMed] [Google Scholar]
- DOLE V. P. A relation between non-esterified fatty acids in plasma and the metabolism of glucose. J Clin Invest. 1956 Feb;35(2):150–154. doi: 10.1172/JCI103259. [DOI] [PMC free article] [PubMed] [Google Scholar]
- DiMauro S., DiMauro P. M. Muscle carnitine palmityltransferase deficiency and myoglobinuria. Science. 1973 Nov 20;182(4115):929–931. doi: 10.1126/science.182.4115.929. [DOI] [PubMed] [Google Scholar]
- HERS H. G. Etudes enzymatiques sur fragments hépatiques; application à la classification des glycogénoses. Rev Int Hepatol. 1959;9(1):35–55. [PubMed] [Google Scholar]
- Hug G., Schubert W. K., Chuck G. Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver. J Clin Invest. 1969 Apr;48(4):704–715. doi: 10.1172/JCI106028. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Pearson D. J., Tubbs P. K. Carnitine and derivatives in rat tissues. Biochem J. 1967 Dec;105(3):953–963. doi: 10.1042/bj1050953. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Reza M. J., Kar N. C., Pearson C. M., Kark R. A. Recurrent myoglobinuria due to muscle carnitine palmityl transferase deficiency. Ann Intern Med. 1978 May;88(5):610–615. doi: 10.7326/0003-4819-88-5-610. [DOI] [PubMed] [Google Scholar]
- Szasz G., Gruber W., Bernt E. Creatine kinase in serum: 1. Determination of optimum reaction conditions. Clin Chem. 1976 May;22(5):650–656. [PubMed] [Google Scholar]