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., ...More

NEUROPEDIATRICS, vol.52, no.05, pp.358-369, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 52 Issue: 05
  • Publication Date: 2021
  • Doi Number: 10.1055/s-0040-1722691
  • Journal Name: NEUROPEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Page Numbers: pp.358-369
  • Keywords: 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 University Affiliated: Yes

Abstract

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.