PDF icon PDF herunterladen
Journal of Pediatric Neurology 2011; 09(01): 087-091
DOI: 10.3233/JPN-2010-0436
Georg Thieme Verlag KG Stuttgart – New York

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

Robin R. McGoey
c   Department of Pathology, Louisiana State University Health Sciences Center, New Orleans, LA, USA
d   Department of Pediatrics, Division of Clinical Genetics, Louisiana State University Health Sciences Center, New Orleans, LA, USA
,
Allison H. Conravey
a   Department of Neurology, Louisiana State University Health Sciences Center, New Orleans, LA, USA
b   Department of Pediatrics, Children's Hospital of New Orleans, New Orleans, LA, USA
,
Joaquin Wong
a   Department of Neurology, Louisiana State University Health Sciences Center, New Orleans, LA, USA
b   Department of Pediatrics, Children's Hospital of New Orleans, New Orleans, LA, USA
,
Michael Marble
b   Department of Pediatrics, Children's Hospital of New Orleans, New Orleans, LA, USA
d   Department of Pediatrics, Division of Clinical Genetics, Louisiana State University Health Sciences Center, New Orleans, LA, USA
› Institutsangaben
Verantwortlicher Herausgeber dieser Rubrik:
Weitere Informationen

Publikationsverlauf

11. Mai 2009

11. Oktober 2009

Publikationsdatum:
30. Juli 2015 (online)

Auch verfügbar aufeRef
 als PDF herunterladen  Lizenzen und Reprints
Preview

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