TürkiyeResearch and clinical trials
Long-term outcomes of 50 patients with propionic acidemia from Hacettepe
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
Hacettepe University studied 50 patients diagnosed between 1984 and 2020. The median age at diagnosis was 18 days. Consanguineous marriage was present in 91% of the patients' families. Developmental delay or intellectual disability was seen in 23 patients. During follow-up, 23 patients died, and 27 are alive.
What does it mean for patients and families?
The disease can still follow a severe course today. Heart and brain check-ups should be regular. The treatment plan is made with a metabolic disease doctor.
Source
Scientific paper: Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort. Journal of Pediatric Endocrinology & Metabolism, 2025. DOI: 10.1515/jpem-2024-0366 · PubMed 39953904
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: Propionic acidemia
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.