Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency.
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.
Olsen
R K J
RK
Research Unit for Molecular Medicine, Skejby Sygehus, Aarhus University Hospital, Brendstrupgaardsvej 100, DK-8200 Aarhus N, Denmark. rikke.olsen@mmf.au.dk
Pourfarzam
M
M
Morris
A A M
AA
Dias
R C
RC
Knudsen
I
I
Andresen
B S
BS
Gregersen
N
N
Olpin
S E
SE
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
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