Urea Cycle Disorders in Neonates: Six Case Reports

oleh: Kıymet Çelik, Demet Terek, Özgür Olukman, Mehtap Kağnıcı, Şükran Keskin Gözmen, Erkin Serdaroğlu, Şebnem Çalkavur, Sertaç Arslanoğlu

Format: Article
Diterbitkan: Galenos Yayinevi 2017-06-01

Deskripsi

Urea cycle disorders are a group of diseases associated with hyperammonemia, which causes severe neurological sequelae, seizures and psychomotor retardation. In this study, six newborn cases diagnosed between 2010-2014 as citrullinemia Type I (four cases) and argininosuccinic aciduria (two cases) are presented in terms of clinical course and treatment responses.