[A case of very-long-chain acyl-CoA dehydrogenase deficiency with adolescent onset being diagnosed by immunostain of biopsy muscle].
We report a case of myopathic form of very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency with adolescent onset which presented with recurrent rhabdomyolysis and was diagnosed by immunostain of biopsy muscle. She was an 18-year-old woman who showed recurrent episodes of rhabdomyolysis after exercise since the age of 15. The diagnosis was made by the immunostain using anti-VLCAD antibody and the measurement of acyl-CoA dehydrogenase activity for the biopsy muscle. Her elder sister had also showed recurrent episodes of rhabdomyolysis at least two times. The analysis of genomic DNA on blood samples of the patient and her sister was performed and the same mutations were identified. Hence, these sister were revealed to have VLCAD deficiency. We should keep in mind this disorder for those presenting with recurrent rhabdomyolysis. In addition, as far as we know, this is the first report that a correct diagnosis was obtained by immunostain. Immunostain is probably a useful diagnostic procedure to identify an uncommon myopathy.
Sakata
Naohiro
N
Department of Neurology and Clinical Neuroscience, Yamaguchi University School of Medicine.
Kawai
Motoharu
M
Morimatsu
Mitsunori
M
Oohashi
Yuuko
Y
Nishino
Ichizou
I
Hasegawa
Yuki
Y
Yamaguchi
Seiji
S
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D000293:Adolescent; D001706:Biopsy; D005260:Female; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology*; D012206:Rhabdomyolysis / Q000201:enzymology / Q000209:etiology* / Q000473:pathology
D044942:Acyl-CoA Dehydrogenase, Long-Chain