Article
A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age.
Brain & development - 1 Nov 2009
Ono Hiroaki, Suto Tetsushi, Kinoshita Yoshihisa, Sakano Takashi, Furue Takeki, Ohta Toshiyuki
Abstract excerpt
Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle which causes hyperammonemia. Two forms of CPS1D are recognized: a lethal neonatal type and a less severe, delayed onset type. Neonatal CPS1D cases often present their symptoms within the first days of life. Delayed onset type were adolescents or adults, and infantile cases were rare. We report a case of CPS1D...
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