TürkiyeResearch and clinical trials
12 patients with primary carnitine deficiency from Türkiye: the most common finding was heart muscle disease
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 Istanbul Cerrahpaşa, 12 patients from eight families were studied. In 92% of patients, the family had a consanguineous marriage. The most common finding was heart muscle disease (75%). When carnitine was given by mouth, carnitine in the blood increased. Heart wall measurements also improved over time.
What does it mean for patients and families?
This is a small study, but it shows that early diagnosis may protect the heart. If someone in the family has been diagnosed, ask your doctor whether siblings should also be tested.
Source
Scientific paper: Primary systemic carnitine deficiency: Phenotypic variability, diagnostic challenges, and long-term outcomes. Pediatrics International, 2025. DOI: 10.1111/ped.70211 · PubMed 41048097
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: Primary carnitine deficiency
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.