A Case of Carbamyl Phosphate Synthetase Deficiency

Abstract

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.