Elsevier

Pediatric Neurology

Volume 2, Issue 1, January–February 1986, Pages 51-53
Pediatric Neurology

Unusual biochemical and clinical features in a girl with ornithine transcarbamylase deficiency

https://doi.org/10.1016/0887-8994(86)90041-XGet rights and content

Abstract

A girl, ultimately diagnosed as having profound ornithine transcarbamylase (OTC) deficiency, presented as a neonate with feeding intolerance, irritability, and seizures without concurrent hyperammonemia. Developing normally until ten months of age, the girl subsequently experienced two episodes of hyperammonemia, which were associated with focal seizures and residual hemiparesis. She continued to have profound neurologic impairment and seizures and died at 26 months of age, despite appropriate dietary protein restriction, sodium benzoate, and arginine supplementation. Symptomatic OTC deficiency has not been previously reported unassociated with hyperammonemia. The recurrent cerebrovascular episodes are distinctly uncommon in patients with urea cycle enzymopathies.

References (12)

There are more references available in the full text version of this article.

Cited by (11)

  • Amino Acids

    2018, Volpe's Neurology of the Newborn
  • Amino Acids

    2017, Volpe's Neurology of the Newborn
  • Neurology of the Newborn

    2008, Neurology of the Newborn
View all citing articles on Scopus
View full text