Cognitive Functioning in Two Sisters with Carbamyl Phosphate Synthetase I Deficiency
- 1 June 1981
- journal article
- case report
- Published by Oxford University Press (OUP) in Journal of Pediatric Psychology
- Vol. 6 (2) , 171-175
- https://doi.org/10.1093/jpepsy/6.2.171
Abstract
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.Keywords
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