Late-Onset Presentation of Ornithine Transcarbamylase Deficiency in a 65-Year-Old Female Patient

ÇOBAN A., Gurses C., Hanagasi H., Aminpoor P., BAYKAL B., GÜRVİT İ. H., ...More

EPILEPSI, vol.11, no.1, pp.22-28, 2005 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 11 Issue: 1
  • Publication Date: 2005
  • Journal Name: EPILEPSI
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.22-28
  • Istanbul University Affiliated: Yes

Abstract

Fluctuating confusion was detected in a 65-year-old woman who was suffering from alterations in consciousness and gait ataxia after high protein dietary intake. The blood level of ammonia was high and EEG showed slow-waves in delta frequency. Hyperammonemia and episodic neurological symptoms suggested a diagnosis of ornithine transcarbamylase deficiency (OTCD). Blood aminoacid profile showed increased tyrosine, and reduced valine-leucine-isoleucine levels. Treatment including protein restriction and administration of sodium benzoate yielded a full recovery. On literature research, she was found to have the most late-onset of OTCD. This case suggests the need to include OTCD in the differential diagnosis of episodic attacks and emphasizes the value of serial EEG recordings during the follow-up of the patient.