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TürkiyeResearch and clinical trials

132 patients with liver glycogen storage disease in Adana: type 3 was the most common

Peer-reviewed publication

A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.

Çukurova University reviewed the records of 132 patients with a confirmed genetic diagnosis. The most common type was type 3, at 42%. The rate of consanguineous marriage was 75%. Short stature was present in 46% at diagnosis, falling to 15% among those who had reached adulthood.

What does it mean for patients and families?

Type 3 is common in Türkiye. If there is a large abdomen, an enlarged liver or low blood sugar, it is helpful to visit a metabolic disease department.

Source

PubMed (Orphanet Journal of Rare Diseases): Clinical features and rare complications in 132 patients with hepatic glycogenosis.

Scientific paper: Clinical features and rare complications in 132 patients with hepatic glycogenosis. Orphanet Journal of Rare Diseases, 2025. DOI: 10.1186/s13023-025-03783-4 · PubMed 40760487

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.

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This page was translated from Turkish by the Doktorclub editorial team.