TürkiyeResearch and clinical trials
24-year GSD type 1 series in Ankara: a single gene change stood out in 39 patients with type Ia
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
Patients with GSD type 1 followed in Ankara between 2000 and 2024 were studied. The study included 39 patients with type Ia and 8 with type Ib. In type Ia, four different changes were found in the G6PC gene. The most common was p.R83C, which made up about 85% of alleles. Some patients had unexpected findings such as stroke, cataracts and thickening of the heart muscle.
What does it mean for patients and families?
In Türkiye, one gene change is very common in type Ia. This information may make diagnosis and genetic counseling within families easier. The authors emphasize the role of marriage between relatives.
Source
Scientific paper: Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes. European Journal of Pediatrics, 2025. DOI: 10.1007/s00431-025-06371-7 · PubMed 40781175
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: Glycogen storage disease type Ia
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.