Inborn Errors of Energy Metabolism Associated with Myopathies

Overview

Journal J Biomed Biotechnol

Specialty Biology

Date 2010 Jul 1

PMID 20589068

Citations 24

Authors

Anibh M Das

Ulrike Steuerwald

Sabine Illsinger

Affiliations

Soon will be listed here.

Abstract

Inherited neuromuscular disorders affect approximately one in 3,500 children. Structural muscular defects are most common; however functional impairment of skeletal and cardiac muscle in both children and adults may be caused by inborn errors of energy metabolism as well. Patients suffering from metabolic myopathies due to compromised energy metabolism may present with exercise intolerance, muscle pain, reversible or progressive muscle weakness, and myoglobinuria. In this review, the physiology of energy metabolism in muscle is described, followed by the presentation of distinct disorders affecting skeletal and cardiac muscle: glycogen storage diseases types III, V, VII, fatty acid oxidation defects, and respiratory chain defects (i.e., mitochondriopathies). The diagnostic work-up and therapeutic options in these disorders are discussed.

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References

Spiekerkoetter U, Huener G, Baykal T, Demirkol M, Duran M, Wanders R . Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2. J Inherit Metab Dis. 2003; 26(6):613-5. DOI: 10.1023/a:1025968502527. View

Brownell A . Malignant hyperthermia: relationship to other diseases. Br J Anaesth. 1988; 60(3):303-8. DOI: 10.1093/bja/60.3.303. View

Bendahan D, Mattei J, Kozak-Ribbens G, Cozzone P . [Non invasive investigation of muscle diseases using 31P magnetic resonance spectroscopy: potential in clinical applications]. Rev Neurol (Paris). 2002; 158(5 Pt 1):527-40. View

Wanders R, Vreken P, den Boer M, Wijburg F, van Gennip A, IJlst L . Disorders of mitochondrial fatty acyl-CoA beta-oxidation. J Inherit Metab Dis. 1999; 22(4):442-87. DOI: 10.1023/a:1005504223140. View

Wong L . Comprehensive molecular diagnosis of mitochondrial disorders: qualitative and quantitative approach. Ann N Y Acad Sci. 2004; 1011:246-58. DOI: 10.1196/annals.1293.024. View

Benca J, Hogan K . Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options. Anesth Analg. 2009; 109(4):1049-53. DOI: 10.1213/ane.0b013e3181adca28. View

Kubisch C, Wicklein E, Jentsch T . Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation. Hum Mutat. 1998; 12(1):27-32. DOI: 10.1002/(SICI)1098-1004(1998)12:1<27::AID-HUMU4>3.0.CO;2-#. View

Hoffman J, Steiner R, Paradise L, Harding C, Ding L, Strauss A . Rhabdomyolysis in the military: recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency. Mil Med. 2006; 171(7):657-8. DOI: 10.7205/milmed.171.7.657. View

McGarry J, Brown N . The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis. Eur J Biochem. 1997; 244(1):1-14. DOI: 10.1111/j.1432-1033.1997.00001.x. View

10.

Voermans N, van Engelen B, Kluijtmans L, Stikkelbroeck N, Hermus A . Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency. Am J Med. 2006; 119(2):176-9. DOI: 10.1016/j.amjmed.2005.07.064. View

11.

YAMADA E, Huzel N . The calcium-binding ATPase inhibitor protein from bovine heart mitochondria. Purification and properties. J Biol Chem. 1988; 263(23):11498-503. View

12.

Wanders R, IJlst L, POGGI F, Bonnefont J, Munnich A, Brivet M . Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. Biochem Biophys Res Commun. 1992; 188(3):1139-45. DOI: 10.1016/0006-291x(92)91350-y. View

13.

Tada H, Kurita T, Ohe T, Shimomura K, Ishihara T, Yamada Y . Glycogen storage disease type III associated with ventricular tachycardia. Am Heart J. 1995; 130(4):911-2. DOI: 10.1016/0002-8703(95)90097-7. View

14.

Demaugre F, Bonnefont J, Colonna M, Cepanec C, LEROUX J, Saudubray J . Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. J Clin Invest. 1991; 87(3):859-64. PMC: 329874. DOI: 10.1172/JCI115090. View

15.

Kiechl S, Willeit J, Vogel W, Kohlendorfer U, Poewe W . Reversible severe myopathy of respiratory muscles due to adult-onset type III glycogenosis. Neuromuscul Disord. 1999; 9(6-7):408-10. DOI: 10.1016/s0960-8966(99)00038-3. View

16.

Fabrizi G, Lodi R, DEttorre M, Malandrini A, Cavallaro T, Rimoldi M . Autosomal dominant limb girdle myopathy with ragged-red fibers and cardiomyopathy. A pedigree study by in vivo 31P-MR spectroscopy indicating a multisystem mitochondrial defect. J Neurol Sci. 1996; 137(1):20-7. DOI: 10.1016/0022-510x(95)00321-r. View

17.

Wen B, Dai T, Li W, Zhao Y, Liu S, Zhang C . Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. J Neurol Neurosurg Psychiatry. 2009; 81(2):231-6. DOI: 10.1136/jnnp.2009.176404. View

18.

Wagenmakers A . Muscle amino acid metabolism at rest and during exercise: role in human physiology and metabolism. Exerc Sport Sci Rev. 1998; 26:287-314. View

19.

Vijay S, Patterson A, Olpin S, Henderson M, Clark S, Day C . Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants. J Inherit Metab Dis. 2006; 29(5):627-30. DOI: 10.1007/s10545-006-0376-y. View

20.

Vladutiu G, Hogan K, Saponara I, Tassini L, Conroy J . Carnitine palmitoyl transferase deficiency in malignant hyperthermia. Muscle Nerve. 1993; 16(5):485-91. DOI: 10.1002/mus.880160509. View