Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
Gök V., Leblebisatan G., Gürlek Gökçebay D., Güler S., Doğan ME., Tuğ Bozdoğan S., Koca Yozgat A., Özcan A., Pekpak Şahinoğlu E., Tokgöz H., Çil M., Özemri Sağ Ş., Yilmaz E., Şaşmaz Hİ., Evim MS., Akbayram S., Karadoğan M., Mutlu FT., Boğa İ., Yeter Doğan B., Yarali N., Çalişkan Ü., Bişgin A., Temel ŞG., Proven M., Gibson K., Demir BŞ., Saraçoğlu H., Eken A., Karakükçü Ç., Karakükçü M., Güneş AM., Özbek NY., Kilinç Y., Patiroğlu T., Özdemir MA., Roy NBA., Ünal E.
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, superior to PK enzyme assay. Two novel intronic variants (c.695-1G>A and c.694+43C>T) have been described. PKD should be suspected in patients with chronic non-spherocytic haemolytic anaemia, even if enzyme levels are falsely normal. Total PKLR gene sequencing is necessary for the characterization of patients with PKD and for genetic counselling.