Home LiteratureArticle Details

PMID: 3119934 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Defects of fatty acid oxidation in skeletal muscle.

Journal of inherited metabolic disease ·Vol. 10 Suppl 1 ·1987-00-00 ·Pages 105-12

Turnbull DM, Bartlett K, Watmough NJ, Shepherd IM, Sherratt HS

Abstract

Fatty acids are important substrates for resting and exercising skeletal muscle. Defects of fatty acid oxidation result in muscle pain and weakness, and there is often lipid accumulation in muscle fibres. Only a few of the several possible enzyme defects have been found and some of these have responded to therapy. Some techniques for the investigation of fatty acid oxidation are outlined.

MeSH Terms

Acyl Coenzyme A/metabolism Carnitine/deficiency Carnitine O-Palmitoyltransferase/deficiency Chromatography, High Pressure Liquid Fatty Acid Desaturases/deficiency Fatty Acids/metabolism Glutarates/metabolism Kinetics Lipid Metabolism, Inborn Errors Mitochondria, Muscle/metabolism Oxidation-Reduction

Chemicals

Acyl Coenzyme A Fatty Acids Glutarates Fatty Acid Desaturases Carnitine O-Palmitoyltransferase glutaric acid Carnitine

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Turnbull D M

Department of Neurology, University of Newcastle upon Tyne.

Bartlett K

Watmough N J

Shepherd I M

Sherratt H S

References (26)

26 references, click to expand

Systemic carnitine deficiency simulating recurrent Reye syndrome.
J Pediatr. 1980 May;96(5):889-91 PMID: 7365598
A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency.
Clin Chim Acta. 1987 May 29;165(1):39-44 PMID: 3608187
Assay of acyl-CoA dehydrogenases in muscle and liver and identification of four new cases of medium-chain acyl-CoA dehydrogenase deficiency associated with systemic carnitine deficiency.
Adv Neurol. 1988;48:231-7 PMID: 3334785
Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.
J Pediatr. 1981 May;98(5):742-6 PMID: 7014807
Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.
N Engl J Med. 1984 Nov 8;311(19):1232-6 PMID: 6493275
An accurate and sensitive assay of [14C]octanoate oxidation and its application on tissue homogenates and fibroblasts.
Biochim Biophys Acta. 1986 Mar 21;876(1):133-7 PMID: 3081042
Disorders of lipid metabolism in muscle.
Muscle Nerve. 1980 Sep-Oct;3(5):369-88 PMID: 7421873
14CO2 production is no adequate measure of [14C]fatty acid oxidation.
Biochem Med Metab Biol. 1986 Jun;35(3):248-59 PMID: 3087394
A spectrophotometric procedure for rapid and sensitive measurements of beta-oxidation. Demonstration of factors that can be rate-limiting for beta-oxidation.
Biochem J. 1977 Jun 15;164(3):621-33 PMID: 883956
Intermittent non-ketotic dicarboxylic aciduria in two siblings with hypoglycaemia: an apparent defect in beta-oxidation of fatty acids.
J Inherit Metab Dis. 1980;3(1):19-24 PMID: 6774167
Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts.
Biochem Med. 1985 Feb;33(1):38-44 PMID: 3994700
Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes.
J Neurol Sci. 1979 Jan;40(1):39-51 PMID: 762593
Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.
Pediatr Res. 1985 Jul;19(7):666-71 PMID: 4022672
Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscle.
Eur J Biochem. 1985 May 15;149(1):207-14 PMID: 3996401
Deficiency of medium chain fatty acylcoenzyme A dehydrogenase presenting as the sudden infant death syndrome.
Br Med J (Clin Res Ed). 1984 Mar 31;288(6422):976 PMID: 6423169
Mitochondrial myopathies: defects in beta-oxidation.
Biochem Soc Trans. 1985 Aug;13(4):645-7 PMID: 3161765
Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes.
Pediatr Res. 1985 Jul;19(7):671-6 PMID: 4022673
The quantitatively minor role of carbohydrate in oxidative metabolism by skeletal muscle in intact man in the basal state; measurements of oxygen and glucose uptake and carbon dioxide and lactate production in the forearm.
J Clin Invest. 1956 Jun;35(6):671-82 PMID: 13319506
Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset.
Neurology. 1986 Mar;36(3):367-72 PMID: 3951704
Muscle carnitine palmityltransferase deficiency and myoglobinuria.
Science. 1973 Nov 20;182(4115):929-31 PMID: 4745596
Radiochemical high-performance liquid chromatography methods for the study of branched-chain amino acid metabolism.
Methods Enzymol. 1988;166:79-92 PMID: 3071724
Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency).
J Inherit Metab Dis. 1984;7 Suppl 1:33-7 PMID: 6434842
Tetracyano-2,2-bipyridineiron(iii), an improved electron acceptor for the spectrophotometric assay of beta-oxidation and of succinate dehydrogenase in intact mitochondria.
Biochem J. 1982 Sep 15;206(3):511-6 PMID: 6293468
Fuel homeostasis in exercise.
N Engl J Med. 1975 Nov 20;293(21):1078-84 PMID: 1178025
Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase.
Neurology. 1986 Jul;36(7):957-63 PMID: 3714057
Carnitine palmityl transferase deficiency: myoglobinuria and respiratory failure.
Neurology. 1980 Mar;30(3):263-71 PMID: 7189025

Article Info

Journal

Journal of inherited metabolic disease

Abbr.

J Inherit Metab Dis

ISSN

0141-8955

DOI

10.1007/BF01812851

Published

1987-00-00

Pages

105-12

Language

English

Region

United States

NLM ID

7910918

Subset

External Links

PubMed source DOI: 10.1007/BF01812851 View journal details

Analysis Services

Defects of fatty acid oxidation in skeletal muscle.

Contact

WeChat Official Account