| Autor: |
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 |
| Předmět: |
|
| Zdroj: |
British Journal of Haematology; Jul2024, Vol. 205 Issue 1, p236-242, 7p |
| Abstrakt: |
Summary: 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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
Plný text