title: Successful prospective management of neonatal citrullinemia.
abstract: 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 later, a younger sister was born without prenatal diagnosis. We monitored plasma ammonia and citrulline levels after birth, and again diagnosed her with CTLN1 on the basis of biochemical and DNA analyses. There have been few reports of the prospective treatment of citrullinemia; however, our experience indicates the need for the prospective management and the rapid reduction of ammonia levels to avoid neonatal hyperammonemic coma and subsequent sequelae.
authors: Department of Pediatrics, Fukushima Medical University of School of Medicine, Hikarigaoka, Fukushima City, Fukushima 960-1295, Japan. go-h@fmu.ac.jp
authors: Hayato
authors: H
authors: Go
authors: Takashi
authors: T
authors: Imamura
authors: Koichi
authors: K
authors: Hashimoto
authors: Kei
authors: K
authors: Ogasawara
authors: Osamu
authors: O
authors: Sakamoto
authors: Noriyuki
authors: N
authors: Takubo
authors: Nobuo
authors: N
authors: Momoi
authors: Mitsuaki
authors: M
authors: Hosoya
mesh_terms: D000328:Adult; D000641:Ammonia / Q000097:blood; D000890:Anti-Infective Agents / Q000627:therapeutic use*; D001124:Argininosuccinate Synthase / Q000235:genetics; D001483:Base Sequence; D001565:Benzoates / Q000627:therapeutic use*; D002956:Citrulline / Q000097:blood; D020159:Citrullinemia / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D019468:Disease Management; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007275:Injections, Intravenous; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D011296:Prenatal Diagnosis; D011379:Prognosis; D011446:Prospective Studies; D006435:Renal Dialysis; D012689:Sequence Homology, Nucleic Acid
chemical_list: D000890:Anti-Infective Agents; D001565:Benzoates; D002956:Citrulline; D000641:Ammonia; D001124:Argininosuccinate Synthase