Valproate-induced hyperammonemic coma in females with unrecognized partial ornithine transcarbamylase deficiency

Article type: Research Article

Authors: McGoey, Robin R.^; | Conravey, Allison H.^; | Wong, Joaquin^; | Marble, Michael^;

Affiliations: Department of Neurology, Louisiana State University Health Sciences Center, New Orleans, LA, USA | Department of Pediatrics, Children's Hospital of New Orleans, New Orleans, LA, USA | Department of Pathology, Louisiana State University Health Sciences Center, New Orleans, LA, USA | Department of Pediatrics, Division of Clinical Genetics, Louisiana State University Health Sciences Center, New Orleans, LA, USA

Note: [] Correspondence: Robin R. McGoey, M.D., Children's Hospital of New Orleans, 200 Henry Clay Avenue, New Orleans, LA 70118, USA. Tel.: +1 504 896 9254; Fax: +1 504 896 3997; E-mail: rmcgoe@lsuhsc.edu

Abstract: A female child with undiagnosed partial ornithine transcarbamylase deficiency suffered hyperammonemic coma after initiation of valproate for suspected seizures. Retrospective history and metabolic testing indicated ornithine transcarbamylase deficiency. This case, along with previous reports in children and adults, demonstrates the importance of a focused history and consideration of appropriate metabolic testing prior to implementation of valproate therapy especially in female patients.

Keywords: Valproate, hyperammonemic coma, ornithine transcarbamylase deficiency, carrier, inborn error of metabolism, urea cycle defect

DOI: 10.3233/JPN-2010-0436

Journal: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 87-91, 2011