Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.
D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D044926:Butyryl-CoA Dehydrogenase; D002331:Carnitine / Q000172:deficiency* / Q000652:urine; D005215:Fasting; D005260:Female; D006801:Humans; D007657:Ketone Bodies / Q000378:metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000378:metabolism* / Q000473:pathology; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000201:enzymology; D009132:Muscles / Q000378:metabolism / Q000648:ultrastructure; D009135:Muscular Diseases / Q000378:metabolism* / Q000473:pathology; D005082:Physical Exertion; D012119:Respiration
D007657:Ketone Bodies; D044944:Acyl-CoA Dehydrogenases; D044926:Butyryl-CoA Dehydrogenase; D002331:Carnitine