Fatty acid oxidation defects in muscle.
Fatty acid oxidation defects can cause recurrent rhabdomyolysis or chronic progressive muscle weakness. Diagnosis is often possible on blood using tandem mass spectrometry or molecular genetic techniques. Riboflavin and carnitine are effective in some cases of multiple acyl-CoA dehydrogenase deficiency and primary carnitine deficiency, respectively. Controlled trials are needed to evaluate other proposed forms of treatment.
Morris
A A
AA
Department of Child Health, University of Newcastle upon Tyne, UK.
Turnbull
D M
DM
D005227:Fatty Acids / Q000378:metabolism*; D006801:Humans; D018908:Muscle Weakness / Q000378:metabolism* / Q000473:pathology; D009132:Muscles / Q000378:metabolism* / Q000473:pathology; D010084:Oxidation-Reduction; D012206:Rhabdomyolysis / Q000378:metabolism* / Q000473:pathology
D005227:Fatty Acids