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The Causes of Epilepsy The Causes of Epilepsy
Common and Uncommon Causes in Adults and Children
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Chapter 35 - Urea cycle disorders

from Section 3 - Symptomatic epilepsy

Published online by Cambridge University Press:  05 March 2012

Simon D. Shorvon
Affiliation:
National Hospital for Neurology and Neurosurgery, London
Frederick Andermann
Affiliation:
Montreal Neurological Hospital and Institute
Renzo Guerrini
Affiliation:
Child Neurology Unit, Meyer Pediatric Hospital, Florence
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Summary

The clinical manifestations of Urea cycle disorders are the result of acute or chronic hyperammonemia and include acute neurologic and gastrointestinal symptoms and signs. Chronic hyperammonemia may induce changes in N-methyl-D-aspartate (NMDA) receptor-mediated neurotransmission and induction of astrocytosis. Patients with partial urea cycle enzyme deficiencies may have a much later presentation, usually with hepatogastric, neurologic, or psychiatric symptoms. Seizures in the neonate are a sign of acute hyperammonemia and occur in approximately 50% of severely hyperammonemic neonates. The electroencephalographic (EEG) abnormalities may parallel the clinical course with improvement in the background and resolution of the epileptiform discharges. Measurement of blood ammonia after a protein load may help to establish the diagnosis in patients with normal baseline ammonia levels. Hemodialysis and hemofiltration can be used to lower ammonia levels acutely while measures to reverse the catabolic state are implemented by infusion of glucose and insulin.
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The Causes of Epilepsy
Common and Uncommon Causes in Adults and Children
, pp. 246 - 248
Publisher: Cambridge University Press
Print publication year: 2011

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