Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult.
A 19-year-old woman with mild myopathic symptoms from age 6 and fasting intolerance presented with a Reye-like syndrome and a myopathy. Investigations disclosed a lipid storage myopathy, type II glutaric acidemia, and carnitine deficiency in skeletal muscle. Riboflavin and carnitine treatment corrected the metabolic abnormalities and she improved clinically. She later died from pulmonary complications secondary to aspiration. Subsequent studies established electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency (fibroblast ETF:QO activity was 2.9 mU/mg, normal range is 14.1 +/- 3.8 mU/mg) as the cause of her illness. This is the first documented case of ETF:QO diagnosed in an adult.
Bell
R B
RB
Department of Clinical Neurosciences, University of Calgary, AB, Canada.
Brownell
A K
AK
Roe
C R
CR
Engel
A G
AG
Goodman
S I
SI
Frerman
F E
FE
Seccombe
D W
DW
Snyder
F F
FF
D000138:Acidosis / Q000209:etiology; D000328:Adult; D002331:Carnitine / Q000172:deficiency / Q000627:therapeutic use; D044927:Electron-Transferring Flavoproteins; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D005260:Female; D005977:Glutarates / Q000097:blood / Q000652:urine; D006801:Humans; D007506:Iron-Sulfur Proteins; D008052:Lipid Metabolism, Inborn Errors / Q000209:etiology; D009097:Multienzyme Complexes / Q000172:deficiency*; D009135:Muscular Diseases / Q000209:etiology; D000587:Oxidoreductases Acting on CH-NH Group Donors; D012202:Reye Syndrome / Q000209:etiology; D012256:Riboflavin / Q000627:therapeutic use
D044927:Electron-Transferring Flavoproteins; D005977:Glutarates; D007506:Iron-Sulfur Proteins; D009097:Multienzyme Complexes; D044943:Fatty Acid Desaturases; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase; C035736:glutaric acid; D002331:Carnitine; D012256:Riboflavin