Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
Veysel GökGöksel LeblebisatanDilek Gürlek GökçebaySalih GülerMuhammet Ensar DoğanSevcan Tuğ BozdoğanAyça Koca YozgatAlper ÖzcanEsra Pekpak ŞahinoğluHüseyin TokgözMetin ÇilŞebnem Özemri SağEbru YilmazHatice İlgen ŞaşmazMelike Sezgin EvimSinan AkbayramMeriban KaradoğanFatma Türkan Mutluİbrahim BoğaBurcu Yeter DoğanNeşe YaraliÜmran ÇalişkanAtil BişginŞehime Gülsün TemelMelanie ProvenKate GibsonBüşra Şeniz DemirHatice SaraçoğluAhmet EkenÇiğdem KarakükçüMusa KarakükçüAdalet Meral GüneşNamık Yaşar ÖzbekYurdanur KilinçTürkan PatiroğluMehmet Akif ÖzdemirNoémi B A RoyEkrem ÜnalPublished in: British journal of haematology (2024)
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.
Keyphrases
- polycystic kidney disease
- copy number
- genome wide
- end stage renal disease
- single cell
- ejection fraction
- newly diagnosed
- microbial community
- emergency department
- peritoneal dialysis
- intensive care unit
- prognostic factors
- protein kinase
- replacement therapy
- hepatitis c virus
- human immunodeficiency virus
- iron deficiency
- patient reported
- men who have sex with men