Article
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
British journal of haematology - 1 Jul 2024
Gök Veysel, Leblebisatan Göksel, Gürlek Gökçebay Dilek, Güler Salih, Doğan Muhammet Ensar, Tuğ Bozdoğan Sevcan, Koca Yozgat Ayça, Özcan Alper, Pekpak Şahinoğlu Esra, Tokgöz Hüseyin, Çil Metin, Özemri Sağ Şebnem, Yilmaz Ebru, Şaşmaz Hatice İlgen, Evim Melike Sezgin, Akbayram Sinan, Karadoğan Meriban, Mutlu Fatma Türkan, Boğa İbrahim, Yeter Doğan Burcu, Yarali Neşe, Çalişkan Ümran, Bişgin Atil, Temel Şehime Gülsün, Proven Melanie, Gibson Kate, Demir Büşra Şeniz, Saraçoğlu Hatice, Eken Ahmet, Karakükçü Çiğdem, Karakükçü Musa, Güneş Adalet Meral, Özbek Namık Yaşar, Kilinç Yurdanur, Patiroğlu Türkan, Özdemir Mehmet Akif, Roy Noemi B A, Ünal Ekrem
Abstract excerpt
Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heterogeneity of PK deficiency (PKD) is high, and over 400 unique variants have been identified. Twenty-nine patients who had been diagnosed as PKD genetically in seven distinct paediatric haematology departments were evaluated. Fifteen of 23 patients (65.2%) had low PK levels. The PK:hexokinase ratio had 100% sensitivity for PKD diagnosis,...
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