Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency.

@article{Batshaw1980CerebralDI,
  title={Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency.},
  author={Mark L. Batshaw and Yeai Roan and August L Jung and Lynn A Rosenberg and Saul W. Brusilow},
  journal={The New England journal of medicine},
  year={1980},
  volume={302 9},
  pages={482-5}
}
We tested the hypothesis that female carriers of ornithine transcarbamylase (OTC) deficiency have cerebral dysfunction as a consequence of episodic hyperammonemia. Seven such carriers were identified by pedigree analysis and protein-tolerance testing. The Wechsler Adult Intelligence Scale was used for evaluation. All IG scores were above 100, but in the protein-tolerant siblings, the full-scale and performance IQ scores were higher by 5.6 and 9.9 points, respectively (P less than 0.02). The… CONTINUE READING
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