• Ana Sayfa

Identify patients with AADC deficiency among those who have established symptoms and to estimate the prevalence of AADC in the Turkish pediatric population, using metabolic [3-OMD (3-O-methyldopa)], enzymatic and genetic assays.

Creative Commons License

Öktem R. M. (Yürütücü)

Diğer Ülkelerdeki Özel Organizasyonlar Tarafından Desteklenmiş Proje, 2021 - 2022

  • Proje Türü: Diğer Ülkelerdeki Özel Organizasyonlar Tarafından Desteklenmiş Proje
  • Başlama Tarihi: Şubat 2021
  • Bitiş Tarihi: Şubat 2022

Proje Özeti

Primary: to identify patients with AADC deficiency among those who have established symptoms and to estimate the prevalence of AADC in the Turkish pediatric population, using metabolic [3-OMD (3-O-methyldopa)], enzymatic and genetic assays. Secondary:  Comparing data, outcomes and screening methods with established guidelines.  Diagnosing other neurotransmitter diseases with similar symptoms in patients whose AADC deficiency has been ruled out.  Assessment and improvement of screening and diagnostic methods thus decreasing misdiagnosis of this ultrarare disease.