Phenotype-genotype correlation and treatment outcomes in mevalonate kinase deficiency: A large Turkish cohort.

doi:10.1016/j.semarthrit.2026.152963

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Phenotype-genotype correlation and treatment outcomes in mevalonate kinase deficiency: A large Turkish cohort.

Seminars in arthritis and rheumatism - 1 Jun 2026

Kaplan Melike Mehveş, Ekici Tekin Zahide, Kılıç Könte Elif, Balık Zeynep, Aydın Tuncay, Çağlayan Şengül, Arık Selen Duygu, Kurt Tuba, Yıldız Çisem, Karalı Yasin, Kışla Ekinci Miray, Çakan Mustafa, Doğantan Şeyda, Kılbaş Gülşah, Bozkaya Yücel Burcu, Tanatar Ayşe, Şener Seher, Esen Esra, Öner Nimet, Köker Oya, Demir Selcan, Sağ Erdal, Demir Yiğit Yasemin, Baba Özge, Kaya Akça Ümmüşen, Taşkın Semanur, Sunar Yayla Emine Nur, Yıldız Mehmet, Gezgin Yıldırım Deniz, Paç Kısaarslan Ayşenur, Kasap Demir Belde, Kalyoncu Mukaddes, Gürgöze Metin Kaya, Yüksel Selçuk, Kılıç Sara Şebnem, Bora Balahan, Sözeri Betül, Aktay Ayaz Nuray, Bilginer Yelda, Kasapçopur Özgür, Özen Seza, Çelikel Acar Banu

Abstract excerpt

OBJECTIVES: This study aimed to comprehensively assess the clinical spectrum, genotype-phenotype correlations, and treatment responses in a large cohort of Turkish pediatric patients with genetically confirmed mevalonate kinase deficiency (MKD). METHODS: This retrospective, multicenter cohort study included 107 genetically confirmed MKD patients followed between 2010 and 2024 across 25 pediatric rheumatology...

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PMID: 41833237
DOI: 10.1016/j.semarthrit.2026.152963

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