The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS

Kilavuz S., BULUT F. D., KOR D., ŞEKER YILMAZ B., ÖZCAN N., İNCECİK F., ...Daha Fazla

NEUROPEDIATRICS, cilt.52, sa.05, ss.358-369, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 52 Sayı: 05
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1055/s-0040-1722691
  • Dergi Adı: NEUROPEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.358-369
  • Anahtar Kelimeler: glutaric aciduria type 1, acute encephalopathic crises, newborn screening program, dystonia, ACIDURIA TYPE-I, GLUTARIC ACIDURIA, DEHYDROGENASE-DEFICIENCY, MUTATION ANALYSIS, NATURAL-HISTORY, CHILDREN, MANAGEMENT, EFFICACY, TYPE-1
  • Çukurova Üniversitesi Adresli: Evet

Özet

Background Glutaric aciduria type 1(GA-1) is an inherited cerebral organic aciduria. Untreated patients with GA-1 have a risk of acute encephalopathic crises during the first 6 years of life. In so far as GA-1 desperately does not exist in Turkish newborn screening (NBS) program, most patients in our study were late-diagnosed.