[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)].
We reported a male infant with multiple acyl CoA dehydrogenase deficiency, probably due to electron transfer flavoprotein dehydrogenase deficiency. He was noted to have severe muscle weakness, a high serum creatine kinase (CK) level up to 6920 IU/L, lipid storage myopathy and fatty liver at 6 months of age. A GC/MS analysis of urinary organic acids showed excess excretion of dicarboxylic acids, including glutaric, 2-hydroxyglutaric, adipic, suberic, sebacic, malonic, ethylmalonic and methylsuccinic acids. On a urinary acylglycine analysis, hexanoylglycine and suberylglycine were increased, but not isovalerylglycine, in amount. No ketosis was noted. The muscle pathology showed increased oil-red O positive lipid droplets of various sizes indicative of lipid storage myopathy. There was diffuse decrease in the activity of cytochrome c oxidase. No ragged-red fibers were noted. His clinical symptoms improved remarkably after the administration of riboflavin (100 mg/day) and L-carnitine (1000 mg/day). He was then diagnosed as having probable riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. The glutaryl CoA dehydrogenase activity in lymphocytes was normal, as were the alpha- and beta-subunits of electron transfer flavoprotein. These findings led us to suspect electron transfer flavoprotein dehydrogenation deficiency. Although he had several episodes of short-term deterioration in clinical and laboratory findings, he developed normally with normal intelligent till 10 years of age.
Tojo
M
M
Department of Pediatrics, Niigata Prefecture Hamagumi Medical Rehabilitation Center for Handicapped Children.
Gunji
T
T
Yamaguchi
S
S
Shimizu
N
N
Koga
Y
Y
Nonaka
I
I
D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D015415:Biomarkers / Q000652:urine; D002331:Carnitine / Q000627:therapeutic use; D002648:Child; D044927:Electron-Transferring Flavoproteins; D005227:Fatty Acids / Q000652:urine; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007506:Iron-Sulfur Proteins; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D008297:Male; D009097:Multienzyme Complexes / Q000172:deficiency; D000587:Oxidoreductases Acting on CH-NH Group Donors; D012256:Riboflavin / Q000627:therapeutic use
D015415:Biomarkers; D044927:Electron-Transferring Flavoproteins; D005227:Fatty Acids; D005977:Glutarates; D007506:Iron-Sulfur Proteins; D009097:Multienzyme Complexes; D044944:Acyl-CoA Dehydrogenases; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase; C035736:glutaric acid; D002331:Carnitine; D012256:Riboflavin