A novel ETFB mutation in a patient with glutaric aciduria type II.
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ABSTRACT:
SUBMITTER: Sudo Y
PROVIDER: S-EPMC4785565 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
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A novel ETFB mutation in a patient with glutaric aciduria type II.
Sudo Yosuke Y Sasaki Ayako A Wakabayashi Takashi T Numakura Chikahiko C Hayasaka Kiyoshi K
Human genome variation 20150618
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. ...[more]
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