METABOLIC MYOPATHIES I

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We describe an unusual case of late-onset multiple acyl-coenzyme A dehydrogenase deficiency (MADD), a rare autosomal recessive metabolic disorder caused by mutations in either electron-transfer-flavoprotein alpha or beta polypeptide or electron-transfer flavoprotein dehydrogenase (ETFDH) that effects mitochondrial electron transfer and metabolism of fatty acids, amino acids, and choline, as well as the development of clinical symptoms and morphological findings over a period of 2 years. In the late-onset form in adolescents and adults, muscular or cardiac symptoms or episodic vomiting are usually first symptoms suggesting MADD.

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