Red blood cell pyruvate kinase deficiency (PKD) is an autosomal recessive disease caused by mutations in the PKLR gene causing a hereditary non-spherocytic hemolytic anemia. The PKLR gene is responsible for coding the red blood cell pyruvate kinase (PK-R), which is the last enzyme of the anaerobic glycolysis in erythrocytes. This article presents the clinical, biochemical and molecular characteristics of patients with PKD in Germany. Medical data of 28 patients with PKD were retrospectively collected and prospectively analyzed for a period of 2 years. The data were collected using standardized questionnaires. All patients participated in the international PKD Natural History Study, being the biggest cohort study of PKD patients, so far. These data highlight the clinical and molecular variability of this rare disease. The study focuses on analyzing the genotype-phenotype association and the quality of life of patients with PKD. The objective of this article is to highlight the clinical and molecular variability of this rare disease in order to diagnose PKD earlier and treat according to the modern medical standards.     «

Red blood cell pyruvate kinase deficiency (PKD) is an autosomal recessive disease caused by mutations in the PKLR gene causing a hereditary non-spherocytic hemolytic anemia. The PKLR gene is responsible for coding the red blood cell pyruvate kinase (PK-R), which is the last enzyme of the anaerobic glycolysis in erythrocytes. This article presents the clinical, biochemical and molecular characteristics of patients with PKD in Germany. Medical data of 28 patients with PKD were retrospectively coll...     »