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Disease

Pyruvate Kinase deficiency

PKLR-related red-cell glycolytic disorder

Inherited PKLR variants can reduce red-cell pyruvate kinase activity and impair ATP generation in erythrocytes.

MEDLINEPLUS GENETICS IDENTIFIERPyruvate kinase deficiencyView source record ↗

Overview

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Red blood cells use glycolysis to make ATP because they do not have . Pyruvate kinase helps complete one ATP-making step. Reduced activity can make red cells fragile and lead to chronic hemolytic anemia.

Quick Facts

AT A GLANCE
Associated genesPKLR

Follow the Connections

See how Pyruvate Kinase deficiency links to other biological records.

Open network
PathwayGlycolysisaffects pathwayGenePKLRassociated with
All 3 Structured Connections
Pyruvate Kinase deficiency · DiseaseAFFECTS PATHWAY →Glycolysis · Pathway
PKLR · GeneASSOCIATED WITH →Pyruvate Kinase deficiency · Disease
Glycolysis · PathwayPROVIDES CONTEXT FOR →Pyruvate Kinase deficiency · Disease

Recommended Reading

Trusted references for learning more about Pyruvate Kinase deficiency.

databasePyruvate kinase deficiencyMedlinePlus Genetics pathwayGlycolysis (R-HSA-70171)Reactome · Homo sapiens
Research Claims

PKLR encodes tissue-specific isoforms through alternative promoter usage. Genotype and residual activity contribute to variable hemolytic anemia; the disease page summarizes the pathway relationship without implying all glycolytic defects have the same phenotype.