TürkiyeResearch and clinical trials
Attacks in children with FMF rose temporarily after the 2023 earthquake
Data from 963 children with FMF (familial Mediterranean fever) at 15 centers in Türkiye were reviewed.
Peer-reviewed publicationFMF
Rare Diseases
News
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
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TürkiyeDiagnosis and screening
10 patients with FOP at Hacettepe: four had a potentially harmful biopsy before diagnosis
Hacettepe University studied 10 patients diagnosed with FOP.
Peer-reviewed publicationFOP
TürkiyeResearch and clinical trials
31 children with limb-girdle muscular dystrophy at Çukurova: calpainopathy was the most common type
Records of children with limb-girdle muscular dystrophy were reviewed at Çukurova University.
Peer-reviewed publicationLGMD
TürkiyeResearch and clinical trials
51 children of Turkish origin with CAPS living in Türkiye and Germany compared
Led by Hacettepe University, children of Turkish origin with CAPS were studied in two countries.
Peer-reviewed publicationCAPS
TürkiyeResearch and clinical trials
12 children with Marfan syndrome in Ordu: half had widening at the root of the main artery
The heart findings of children with Marfan syndrome were studied at Ordu University.
Peer-reviewed publicationMarfan
TürkiyeSGK and reimbursement
SGK adds a drug that prevents hereditary angioedema attacks to reimbursement
On April 8, 2026, a drug that prevents attacks in hereditary angioedema was added to SGK (Social Security Institution) reimbursement coverage.
News reportHAE
TürkiyeDiagnosis and screening
Hearing screening of newborns with biotinidase deficiency in Konya was the same as in healthy babies
Babies found to have biotinidase deficiency through newborn screening in Konya were studied.
Peer-reviewed publicationBiotinidase deficiency
TürkiyeDiagnosis and screening
In Wilson disease, a diagnostic delay of more than one year was linked to a worse course
A study from Kayseri City Hospital examined diagnostic delay in Wilson disease.
Peer-reviewed publicationWilson
TürkiyeResearch and clinical trials
4,914 pregnancies in women with systemic sclerosis studied across Türkiye: miscarriage risk was higher
Under the supervision of the Ministry of Health, pregnancy outcomes of women with systemic sclerosis across Türkiye were studied.
Peer-reviewed publicationSystemic sclerosis
TürkiyeResearch and clinical trials
53 patients with early fusion of skull bones in Istanbul: Apert syndrome takes a more severe course
A center in Istanbul studied syndromes in which the skull bones fuse early.
Peer-reviewed publicationApert
TürkiyeResearch and clinical trials
Inner ear structure differs in CHARGE syndrome: an 18-patient study from Hacettepe
Ear, nose, and throat doctors at Hacettepe University studied the inner ear of patients with CHARGE syndrome.
Peer-reviewed publicationCHARGE
TürkiyeResearch and clinical trials
69 xeroderma pigmentosum patients from 12 centers studied in Türkiye; 30 new gene changes found
In Türkiye, 12 centers jointly studied 69 patients from 52 families.
Peer-reviewed publicationXeroderma (XP)
TürkiyeDiagnosis and screening
In Istanbul, acute porphyria found in 5 of 104 patients with abdominal pain thought to have FMF
A total of 104 patients followed for suspected FMF, but whose genetic test did not confirm it, were screened with a urine test during abdominal pain.
Peer-reviewed publicationAcute porphyria (AIP)
TürkiyeDiagnosis and screening
9 patients with hereditary fructose intolerance in Ankara: avoiding sweets can mask the diagnosis
At Ankara Etlik City Hospital, 9 patients with hereditary fructose intolerance were studied.
Peer-reviewed publicationFructose intolerance
TürkiyeResearch and clinical trials
Five LAM patients from Çanakkale: shortness of breath and cough are the most common symptoms
Çanakkale Onsekiz Mart University reported five patients diagnosed with LAM over the past two years.
Peer-reviewed publicationLAM
TürkiyeResearch and clinical trials
Study of 69 children with Behçet's disease in Samsun: one in five had nervous system involvement
In Samsun, the records of 69 children diagnosed with Behçet's disease were reviewed.
Peer-reviewed publicationBehçet
TürkiyeResearch and clinical trials
One of the largest mevalonate kinase deficiency series published from Türkiye, with 107 children from 25 centers
In Türkiye, 107 children with MKD were studied at 25 pediatric rheumatology centers.
Peer-reviewed publicationMKD (hyper-IgD)
TürkiyeResearch and clinical trials
Diet and gut flora studied together in 8 patients with methylmalonic acidemia in Ankara
At Ankara University, 8 patients with methylmalonic acidemia were followed step by step.
Peer-reviewed publicationMMA
TürkiyeHealth policy
Rare Disease Day: at least 5 million people affected in Türkiye
Prof. Dr. Hacer Durmuş Tekçe of the Turkish Neurological Society said that at least 5 million people in Türkiye are affected by rare diseases and that diagnosis can be delayed by 5–8 years.
News report
TürkiyeResearch and clinical trials
RareBoost project in İzmir: 70 undiagnosed rare disease patients diagnosed
In the RareBoost project in İzmir, 70 patients were diagnosed in about 2.5 years.
News report