title: Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency.
abstract: 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.
authors.affiliation: Research Unit for Molecular Medicine, Skejby Sygehus, Aarhus University Hospital, Brendstrupgaardsvej 100, DK-8200 Aarhus N, Denmark. rikke.olsen@mmf.au.dk
authors.forename: R K J
authors.initials: RK
authors.lastname: Olsen
authors.forename: M
authors.initials: M
authors.lastname: Pourfarzam
authors.forename: A A M
authors.initials: AA
authors.lastname: Morris
authors.forename: R C
authors.initials: RC
authors.lastname: Dias
authors.forename: I
authors.initials: I
authors.lastname: Knudsen
authors.forename: B S
authors.initials: BS
authors.lastname: Andresen
authors.forename: N
authors.initials: N
authors.lastname: Gregersen
authors.forename: S E
authors.initials: SE
authors.lastname: Olpin
mesh_terms: D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency / Q000235:genetics*; D000293:Adolescent; D017668:Age of Onset; D001483:Base Sequence; D015153:Blotting, Western; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000378:metabolism; D042967:Electron Transport Complex I / Q000172:deficiency / Q000235:genetics; D044927:Electron-Transferring Flavoproteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007506:Iron-Sulfur Proteins / Q000235:genetics*; D050356:Lipid Metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics*; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D010641:Phenotype; D012121:Respiration, Artificial
chemical_list: D018076:DNA, Complementary; D044927:Electron-Transferring Flavoproteins; D007506:Iron-Sulfur Proteins; D044944:Acyl-CoA Dehydrogenases; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase; D042967:Electron Transport Complex I