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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

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.

Publication metadata

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

Year: 2004

Volume: 27

Issue: 5

Pages: 671-678

Print publication date: 01/01/2004

ISSN (print): 0141-8955

ISSN (electronic): 1573-2665

Publisher: Springer


DOI: 10.1023/B:BOLI.0000042986.10291.e9


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