Subacute myopathy in a mature patient due to multiple acyl‐coenzyme a dehydrogenase deficiency

Introduction: Multiple acyl‐coenzyme A dehydrogenase deficiency (MADD), also called glutaric aciduria type II, is an inherited metabolic disorder resulting from a deficiency in electron transfer flavoprotein (ETF) or of its ubiquinone oxidoreductase (ETF‐QO). It usually occurs in the neonatal period...

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Published in:Muscle & nerve 2011-03, Vol.43 (3), p.444-446
Main Authors: Kaminsky, Pierre, Acquaviva‐Bourdain, Cecile, Jonas, Jacques, Pruna, Lelia, Chaloub, Gihan e, Rigal, Odile, Grignon, Yves, Vianey‐Saban, Christine
Format: Article
Language:English
Subjects:
adult
Age Factors
Biological and medical sciences
Diagnosis, Differential
Diseases of striated muscles. Neuromuscular diseases
electron transfer flavoprotein
Female
glutaric aciduria type II
Humans
lipid‐storage myopathy
Medical sciences
metabolic myopathy
Middle Aged
Multiple Acyl Coenzyme A Dehydrogenase Deficiency - complications
Multiple Acyl Coenzyme A Dehydrogenase Deficiency - diagnosis
multiple acyl‐CoA deficiency
Muscular Diseases - diagnosis
Muscular Diseases - etiology
Neurology
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Summary:Introduction: Multiple acyl‐coenzyme A dehydrogenase deficiency (MADD), also called glutaric aciduria type II, is an inherited metabolic disorder resulting from a deficiency in electron transfer flavoprotein (ETF) or of its ubiquinone oxidoreductase (ETF‐QO). It usually occurs in the neonatal period or in early infancy and, very rarely, in adolescents and young adult patients. Methods: We report the case of a 55‐year‐old woman who developed a painful subacute myopathy. Results: Lipid accumulation was found at biopsy. MADD was confirmed by plasma acylcarnitine profile and by assessment of ETF‐QO activity in muscle. Conclusions: This study demonstrates that metabolic myopathies usually found in infancy may be also diagnosed in older patients. MADD may be easily treated by riboflavin and coenzyme Q10 and therefore should be included in the differential diagnosis of adult‐onset painful myopathy. Muscle Nerve 43: 444–446, 2011
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.21881