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. 2024 Jul;205(1):236-242.
doi: 10.1111/bjh.19575. Epub 2024 May 29.

Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants

Veysel Gök  1 , Göksel Leblebisatan  2 , Dilek Gürlek Gökçebay  3 , Salih Güler  4 , Muhammet Ensar Doğan  5 , Sevcan Tuğ Bozdoğan  6   7 , Ayça Koca Yozgat  3 , Alper Özcan  1 , Esra Pekpak Şahinoğlu  8 , Hüseyin Tokgöz  9 , Metin Çil  10 , Şebnem Özemri Sağ  11 , Ebru Yilmaz  1 , Hatice İlgen Şaşmaz  2   12 , Melike Sezgin Evim  4 , Sinan Akbayram  8 , Meriban Karadoğan  13 , Fatma Türkan Mutlu  13 , İbrahim Boğa  6   7 , Burcu Yeter Doğan  14 , Neşe Yarali  15 , Ümran Çalişkan  9   16 , Atil Bişgin  6   7 , Şehime Gülsün Temel  11   17 , Melanie Proven  18 , Kate Gibson  18 , Büşra Şeniz Demir  19 , Hatice Saraçoğlu  20   21 , Ahmet Eken  19   22 , Çiğdem Karakükçü  20   21 , Musa Karakükçü  1 , Adalet Meral Güneş  4 , Namık Yaşar Özbek  3 , Yurdanur Kilinç  2 , Türkan Patiroğlu  1 , Mehmet Akif Özdemir  1 , Noemi B A Roy  18   23 , Ekrem Ünal  1   24   25
Affiliations

Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants

Veysel Gök et al. Br J Haematol. 2024 Jul.

Abstract

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.

Keywords: PKD; PKLR; enzyme; haemolytic anaemia; pyruvate kinase.

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References

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