A Case of Carbamyl Phosphate Synthetase Deficiency
1972 年 107 巻 2 号 p. 143-147
詳細
1972 年 107 巻 2 号 p. 143-147
A case is reported of a 2-month-old female infant with cabamyl phosphate synthetase deficiency in whom persistent vomiting appeared 7 days after birth, with irregular eye movement. Failure to thrive, hypotonia and a generalized atrophy of the brain were observed. This is the fourth case of carbamyl phosphate synthetase deficiency in the literature.
