Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency.
We report the outcome of 16 Japanese patients with medium chain acyl-CoA dehydrogenase deficiency. Of them, 7 patients were diagnosed after metabolic crisis, while 9 were detected in the asymptomatic condition. Of the 7 symptomatic cases, 1 died suddenly, and 4 cases had delayed development. All 9 patients identified by neonatal or sibling screening remained healthy. Of 14 mutations identified, 10 were unique for Japanese, and 4 were previously reported in other nationalities. Presymptomatic detection including neonatal screening obviously improves quality of life of Japanese patients, probably regardless of the genotypes.
Department of Pediatrics, Shimane University Faculty of Medicine, Izumo 693-8501, Japan. jamiyan@med.shimane-u.ac.jp
Jamiyan
J
Purevsuren
Yuki
Y
Hasegawa
Seiji
S
Fukuda
Hironori
H
Kobayashi
Yuichi
Y
Mushimoto
Kenji
K
Yamada
Tomoo
T
Takahashi
Toshiyuki
T
Fukao
Seiji
S
Yamaguchi
D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D000483:Alleles; D044466:Asian People; D002675:Child, Preschool; D005091:Exons; D005190:Family; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007564:Japan; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D008297:Male; D009154:Mutation
D005227:Fatty Acids; D042964:Acyl-CoA Dehydrogenase