Note to users. If you're seeing this message, it means that your browser cannot find this page's style/presentation instructions -- or possibly that you are using a browser that does not support current Web standards. Find out more about why this message is appearing, and what you can do to make your experience of our site the best it can be.

Science 2 March 1973:
Vol. 179. no. 4076, pp. 899 - 902
DOI: 10.1126/science.179.4076.899
Prev | Table of Contents | Next

Articles

Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome

Andrew G. Engel 1 and Corrado Angelini 1

1 Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55901

In a rare myopathy muscle fibers contained myriad lipid-filled vacuoles. Homogenates of the patient's muscle oxidized fatty acids more slowly than normal (11 controls). Addition of carnitine increased the oxidation rate with the patient's muscle to the level attained by the controls with carnitine. In five separate muscle samples from the patient the mean carnitine level was less than 20 percent of that observed in 42 controls. Carnitine palmityl transferase and palmityl thiokinase levels in the patient's muscles were not depressed. The present case represents the first recognized instance of carnitine deficiency in human skeletal muscle.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
New insights concerning the role of carnitine in the regulation of fuel metabolism in skeletal muscle.
F. B. Stephens, D. Constantin-Teodosiu, and P. L. Greenhaff (2007)
J. Physiol. 581, 431-444
   Abstract »    Full Text »    PDF »
Malonyl-CoA and carnitine in regulation of fat oxidation in human skeletal muscle during exercise.
C. Roepstorff, N. Halberg, T. Hillig, A. K. Saha, N. B. Ruderman, J. F. P. Wojtaszewski, E. A. Richter, and B. Kiens (2005)
Am J Physiol Endocrinol Metab 288, E133-E142
   Abstract »    Full Text »    PDF »
Decreased Fatty Acid {beta}-Oxidation in Riboflavin-Responsive, Multiple Acylcoenzyme A Dehydrogenase-Deficient Patients Is Associated with an Increase in Uncoupling Protein-3.
A. P. Russell, P. Schrauwen, E. Somm, G. Gastaldi, M. K. C. Hesselink, G. Schaart, E. Kornips, S. K. Lo, D. Bufano, J.-P. Giacobino, et al. (2003)
J. Clin. Endocrinol. Metab. 88, 5921-5926
   Abstract »    Full Text »    PDF »
Age-Associated Cardiomyopathy in Heterozygous Carrier Mice of a Pathological Mutation of Carnitine Transporter Gene, OCTN2.
E Xiaofei, Y. Wada, M. Dakeishi, F. Hirasawa, K. Murata, H. Masuda, T. Sugiyama, H. Nikaido, and A. Koizumi (2002)
J. Gerontol. A Biol. Sci. Med. Sci. 57, B270-278
   Abstract »    Full Text »
Fatty acid metabolism in cardiac failure: biochemical, genetic and cellular analysis.
J. Marin-Garcia and M. J. Goldenthal (2002)
Cardiovasc Res 54, 516-527
   Full Text »    PDF »
The effects of increasing exercise intensity on muscle fuel utilisation in humans.
L. J C van Loon, P. L Greenhaff, D Constantin-Teodosiu, W. H M Saris, and A. J M Wagenmakers (2001)
J. Physiol. 536, 295-304
   Abstract »    Full Text »    PDF »
Influence of L-carnitine and its derivatives on myocardial metabolism and function in ischemic heart disease and during cardiopulmonary bypass.
R Lango, R.T Smolenski, M Narkiewicz, J Suchorzewska, and W Lysiak-Szydlowska (2001)
Cardiovasc Res 51, 21-29
   Abstract »    Full Text »    PDF »
Mitochondrial Medicine - Molecular Pathology of Defective Oxidative Phosphorylation.
E. Fosslien (2001)
Ann. Clin. Lab. Sci. 31, 25-67
   Abstract »    Full Text »    PDF »
Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency.
Y. Wang, J. Ye, V. Ganapathy, and N. Longo (1999)
PNAS 96, 2356-2360
   Abstract »    Full Text »    PDF »
Case 22-1998- A 22-Year-Old Man with a Cardiac Transplant and Creatine Kinase Elevation.
H. R. Jones and S. M. de la Monte (1998)
N. Engl. J. Med. 339, 182-190
   Full Text »    PDF »
Primary and Secondary Carnitine Deficiency Syndromes.
R. Pons and D. C. De Vivo (1995)
J Child Neurol 10, 2S8-2S24
   Abstract »    PDF »
Review Article: Carnitine, Valproate, and Toxicity.
D. L. Coulter (1991)
J Child Neurol 6, 7-14
   Abstract »    PDF »
Rapid Spectrophotometric Determination of Plasma Carnitine Concentrations.
J. Maeda and S. J. Dudrick (1990)
JPEN J Parenter Enteral Nutr 14, 527-532
   Abstract »    PDF »
Low Plasma Carnitine in Patients on Prolonged Total Parenteral Nutrition: Association with Low Plasma Lysine.
Y. N. Berner, W. A. Larchian, S. F. Lowry, R. R. Nicora, M. F. Brennan, and M. Shike (1990)
JPEN J Parenter Enteral Nutr 14, 255-258
   Abstract »    PDF »
'Dystrophic' Lipid Myopathy in Two Sisters.
J. E. Carroll, M. H. Brooke, A. Villadiego, B. J. Norris, and J. I. Trefz (1986)
Arch Neurol 43, 128-131
   Abstract »    PDF »
Familial Systemic Carnitine Deficiency.
R. P. Cruse, S. Di Mauro, J. Towfighi, and C. Trevisan (1984)
Arch Neurol 41, 301-305
   Abstract »    PDF »
Carnitine Metabolism and Its Application in Parenteral Nutrition.
R. C. Tao and N. N. Yoshimura (1980)
JPEN J Parenter Enteral Nutr 4, 469-486
   PDF »
Dagen des Oordeels: Pathokinetic Mechanisms and Molecular Messengers (A Dramatic View).
W. K. Engel (1979)
Arch Neurol 36, 329-339
   Abstract »    PDF »
The Muscular Dystrophies and Related Disorders: II. Diseases Simulating Muscular Dystrophies.
T. Furukawa and J. B. Peter (1978)
JAMA 239, 1654-1659
   Abstract »    PDF »
Hepatitis-Associated Lipid Storage Myopathy.
B. M. PATTEN, J. M. SHABOT, J. ALPERIN, and R. F. DODSON (1977)
Ann Intern Med 87, 417-421
   Abstract »    PDF »
Neuromuscular Disorder Associated With a Defect in Mitochondrial Energy Supply.
D. L. Schotland, S. DiMauro, E. Bonilla, A. Scarpa, and C.-P. Lee (1976)
Arch Neurol 33, 475-479
   Abstract »    PDF »
Pathogenesis of Muscular Dystrophies.
L. P. Rowland (1976)
Arch Neurol 33, 315-321
   Abstract »    PDF »
Urinary Excretion of Carnitine in Duchenne Muscular Dystrophy.
S. DiMauro and L. P. Rowland (1976)
Arch Neurol 33, 204-205
   Abstract »    PDF »
Experimental Thiamine Deficiency: Neuropathic and Mitochondrial Changes Induced in Rat Muscle.
R. A. P. Kark, W. J. Brown, V. R. Edgerton, S. F. Reynolds, and G. Gibson (1975)
Arch Neurol 32, 818-825
   Abstract »    PDF »
Muscle Carnitine Deficiency: Association With Lipid Myopathy, Vacuolar Neuropathy, and Vacuolated Leukocytes.
W. R. Markesbery, M. P. McQuillen, P. G. Procopis, A. R. Harrison, and A. G. Engel (1974)
Arch Neurol 31, 320-324
   Abstract »    PDF »
Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria.
S. DiMauro and P. M. M. DiMauro (1973)
Science 182, 929-931
   Abstract »    PDF »
Carnitine Deficiency Myopathy.
S.V. (1973)
JAMA 225, 165-166
   Abstract »    PDF »
Molecular and Functional Characterization of Organic Cation/Carnitine Transporter Family in Mice.
I. Tamai, R. Ohashi, J.-i. Nezu, Y. Sai, D. Kobayashi, A. Oku, M. Shimane, and A. Tsuji (2000)
J. Biol. Chem. 275, 40064-40072
   Abstract »    Full Text »    PDF »


To Advertise     Find Products

Science. ISSN 0036-8075 (print), 1095-9203 (online)