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Adult onset ornithine transcarbamylase deficiency: an unusual cause of semantic disorders

¹ Service de Neurologie, Hôpital Bretonneau, 37044 Tours, cedex, France
² Inserm U 316, 37044 Tours, Cedex, France
³ Service de Neuroradiologie, Hôpital Bretonneau
⁴ Service de Réanimation Médicale, Hôpital Bretonneau
⁵ Service de Pédiatrie, R Hôpital Clocheville, 37044 Tours, cedex France
⁶ Service de Médecine Interne A, Hôpital Bretonneau

Correspondence to:
Correspondence to:
Dr C Hommet
Service de Neurologie, Hôpital Bretonneau, 37044 Tours, Cedex, France; hommet{at}med.univ-tours.fr

ABSTRACT
Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder. This condition usually presents in neonates or children. This report describes the clinical case of a 21 year old woman who was diagnosed in adulthood during the course of an unexplained coma. After recovery from the coma, she presented very unusual neuropsychological disorders involving memory and the meaning of certain words, suggesting a semantic deficit. The discovery of OTCD in adulthood is rare and the neuropsychological consequences may be unique.

Abbreviations: OCTD, ornithine transcarbamylase deficiency

Keywords: ornithine transcarbamylase deficiency; semantic memory; adulthood

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