Article
Successful prospective management of neonatal citrullinemia.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2012
Go Hayato, Imamura Takashi, Hashimoto Koichi, Ogasawara Kei, Sakamoto Osamu, Takubo Noriyuki, Momoi Nobuo, Hosoya Mitsuaki
Abstract excerpt
Classical citrullinemia generally involves hyperammonemic coma in the first few days of life and leads to neurological sequelae in survivors. We report a case of an elder sister who fell into a hyperammonemic coma on the fifth day after birth. She was successfully treated with intravenous benzoate and hemodialysis, and was subsequently diagnosed with citrullinemia on the basis of biochemical analysis. Two years...
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