TürkiyeDiagnosis and screening
In Istanbul, the PHEX gene was the most common cause in 50 patients with inherited low phosphate
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
At Marmara University, 50 patients with inherited low phosphate levels were studied genetically. A cause was found in 43 of the patients. In half, the PHEX gene, which causes X-linked hypophosphatemia, was responsible. An additional testing method increased the diagnostic rate by 10%. No cause could be found in 10% of patients.
What does it mean for patients and families?
Low phosphate has many genetic causes, and treatment varies accordingly. Comprehensive genetic testing is important for an accurate diagnosis.
Source
Scientific paper: Clinical and Molecular Genetic Characteristics of Patients with Hereditary Hypophosphatemia. The Journal of Clinical Endocrinology and Metabolism, 2025. DOI: 10.1210/clinem/dgae868 · PubMed 39700445
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: X-linked hypophosphatemia (XLH)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.