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., ...Daha Fazla

EPILEPSI, cilt.11, sa.1, ss.22-28, 2005 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 11 Sayı: 1
  • Basım Tarihi: 2005
  • Dergi Adı: EPILEPSI
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.22-28
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.