L. 7 Glycolysis Diseases

Question 1

Pyruvate Kinase Deficiency

Answer 1

• Causes hemolytic anemia
• Unable to produce ATP from PEP -> pyruvate
• RBCs rely strictly on glycolysis for ATP
• ATP is needed for pumps to maintain RBC flexibility
• Absence of ATP causes RBCs to have abnormal shape and get destroyed by macrophages

Question 2

Lactic Acidosis

Answer 2

• Hypoxia causes absence of O2
• Cells forced to use anaerobic glycolysis
• Excess lactate production = lactic acidosis

Question 3

Diabetes + Sorbitol

Answer 3

• Hyperglycemia saturates glycolysis and causes excess sorbitol production in lens, retina, nerve, kidney
• These cells cant efficiently convert sorbitol to fructose
• Sorbitol is trapped in cells and attracts a lot of water -> causes swelling
• Cataracts, retinopathy, nephropathy, peripheral neuropathy