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Lipid‐storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late‐onset multiple acyl‐CoA dehydrogenation deficiency
Author(s) -
Olsen R. K. J.,
Pourfarzam M.,
Morris A. A. M.,
Dias R. C.,
Knudsen I.,
Andresen B. S.,
Gregersen N.,
Olpin S. E.
Publication year - 2004
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000042986.10291.e9
Subject(s) - myopathy , mitochondrial myopathy , flavoprotein , carnitine , dehydrogenation , respiratory system , compound heterozygosity , medicine , biology , mutation , endocrinology , genetics , gene , biochemistry , mitochondrial dna , enzyme , catalysis
Abstract Summary: We report a patient with lipid‐storage myopathy due to multiple acyl‐CoA dehydrogenation deficiency (MADD). Molecular genetic analysis showed that she was compound heterozygous for mutations in the gene for electron transfer flavoprotein:ubiquinone oxidoreductase (ETFQO). Despite a good initial response to treatment, she developed respiratory insufficiency at age 14 years and has required long‐term overnight ventilation. Thus, MADD is one of the few conditions that can cause a myopathy with weakness of the respiratory muscles out of proportion to the limb muscles.