Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria.
A 9-year-old boy had recurrent episodes of myoglobinuria and normal urinary organic acid profile. Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency was detected biochemically in cultured skin fibroblasts and confirmed by Western blot analysis. The patient had a distinctive plasma fatty-acid profile, which was present even between attacks. Early diagnosis of this disorder is important because of the apparently protective effect of an appropriate dietary regimen.
Minetti
C
C
Department of Paediatrics, University of Genova, Italy. minettic@unige.it
Garavaglia
B
B
Bado
M
M
Invernizzi
F
F
Bruno
C
C
Rimoldi
M
M
Pons
R
R
Taroni
F
F
Cordone
G
G
D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002478:Cells, Cultured; D002648:Child; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D005230:Fatty Acids, Nonesterified / Q000097:blood; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008297:Male; D017240:Mitochondrial Myopathies / Q000201:enzymology* / Q000473:pathology / Q000652:urine; D018657:Muscle Fibers, Slow-Twitch / Q000473:pathology / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009212:Myoglobinuria; D012008:Recurrence; D012867:Skin / Q000201:enzymology
D005230:Fatty Acids, Nonesterified; D044943:Fatty Acid Desaturases; D044942:Acyl-CoA Dehydrogenase, Long-Chain