Makale detayı · 2024
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants
British Journal of Haematology
- Yıl
- 2024
- ISSN
0007-1048- Tür
- article
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Özet
İngilizce (OpenAlex)
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.
Konular
- Erythrocyte Function and Pathophysiology
- Amino Acid Enzymes and Metabolism
- Biomedical Research and Pathophysiology
Birincil konu Erythrocyte Function and Pathophysiology