Pyruvate Kinase Deficiency
- Pyruvate Dehydrogenase Deficiency
- Pyruvate Kinase Deficiency
- G6PD Deficiency
- Essential Fructosuria
- Hereditary Fructose Intolerance
- Galactokinase Deficiency
- Lactase Deficiency
- Ornithine Transcarbamylase Deficiency
- Phenylketonuria (PKU)
- Maple Syrup Urine Disease
- Propionic Acidemia
- Lesch-Nyhan Syndrome
- Systemic Primary Carnitine Deficiency
- MCAD Deficiency
Pyruvate Kinase Deficiency is an autosomal recessive disorder primarily affecting red blood cells (RBCs).
A deficiency of pyruvate kinase impairs the final step of glycolysis (from PEP to pyruvate), leading to ATP depletion.
ATP depletion in RBCs leads to rigidity and extravascular hemolysis in the spleen. The resulting anemia is compensated for by increased 2,3-BPG, which increases oxygen unloading to tissues.
Chronic hemolysis can lead to jaundice, pigmented gallstones, and increased bilirubin levels. Echinocytes ("burr cells") can be seen on peripheral blood smear. The treatment includes transfusions for anemia and splenectomy in severe cases.
Find this Pyruvate Kinase Deficiency mnemonic and more Metabolic Disorders mnemonics among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.