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Journal of Pediatric Psychology 6(2) pp. 171-175, 1981
© 1981 Society of Pediatric Psychology

other

Cognitive Functioning in Two Sisters with Carbamyl Phosphate Synthetase I Deficiency1

Edward A. Sassaman2, Ann S. Zartler and James A. Mulick

Child Development Center and Brown University Program in Medicine

2All correspondence should be sent to Edward A. Sassaman, University Affiliated Program, Child Development Center, 593 Eddy Street, Providence, Rhode Island 02902

The case histories of two teen-age girls with carbamyl phosphate synthetase I deficiency are presented. Appropriate psychometric studies show that these women are functioning in the borderline range of cognitive skills. These results emphasize that individuals with Krebs-Henseleit urea cycle enzyme deficiencies who survive the neonatal period are not necessarily severely mentally retarded as has been stressed previously.


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