title: A novel ETFB mutation in a patient with glutaric aciduria type II.
abstract: Glutaric aciduria type II (GAII) is a rare inborn error of metabolism clinically classified into a neonatal-onset form with congenital anomalies, a neonatal-onset form without congenital anomalies and a mild and/or late-onset form (MIM #231680). Here, we report on a GAII patient carrying a homozygous novel c.143_145delAGG (p.Glu48del) mutation in the ETFB gene, who presented with a neonatal-onset form with congenital anomalies and rapidly developed cardiomegaly after birth.
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine , Yamagata, Japan.
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Sudo
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine , Yamagata, Japan.
authors.forename: Ayako
authors.initials: A
authors.lastname: Sasaki
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine , Yamagata, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Wakabayashi
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine , Yamagata, Japan.
authors.forename: Chikahiko
authors.initials: C
authors.lastname: Numakura
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine , Yamagata, Japan.
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Hayasaka