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Lookup NU author(s): Dr Morteza Pourfarzam,
Dr Andrew Morris,
Dr Raul Dias
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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.
Author(s): Olsen RKJ, Pourfarzam M, Morris AAM, Dias RC, Knudsen I, Andresen BS, Gregersen N, Olpin SE
Publication type: Article
Publication status: Published
Journal: Journal of Inherited Metabolic Disease
Print publication date: 01/01/2004
ISSN (print): 0141-8955
ISSN (electronic): 1573-2665
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