TürkiyeResearch and clinical trials
50 GA1 patients in Türkiye not detected by screening: late diagnosis left lasting damage
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
Two centers in Istanbul reviewed the records of 50 children diagnosed with GA1. In Türkiye, this disease is not included in the heel-prick blood screening. The median age at diagnosis was 10 months. Consanguineous marriage was present in 78% of families. A severe crisis occurred in 66% of patients, and 12 children died during follow-up.
What does it mean for patients and families?
The authors recommend adding GA1 to newborn screening. This is a recommendation from a study, not an official decision. Talk with your metabolic disease doctor in advance about what to do during an illness with fever.
Source
Scientific paper: Glutaric acidemia type 1 in a non-newborn-screened cohort: clinical, biochemical, and molecular features and neurologic outcomes. Italian Journal of Pediatrics, 2026. DOI: 10.1186/s13052-026-02284-9 · PubMed 42210298
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Glutaric aciduria type 1 (GA1)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.