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.
About this Journal The Tohoku Journal of Experimental Medicine (TJEM) was founded in 1920
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