Disorders_of_Carbohydrate_Metabolism.pptx

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1. Disorders of Carbohydrate Metabolism An Overview of Key Disorders, Mechanisms, and Treatments Prepared by: [Your Name]

2. Introduction • Carbohydrate metabolism involves the breakdown and synthesis of carbohydrates to produce energy. • Disorders of carbohydrate metabolism result from defects in enzymes responsible for these processes.

3. Overview of Carbohydrate Metabolism • Key pathways: Glycolysis, Gluconeogenesis, Glycogen metabolism. • Key molecules: Glucose, Glycogen, Pyruvate. • Energy generation via ATP.

4. Classification of Disorders • Glycogen storage diseases (e.g., von Gierke's disease). • Disorders of glycolysis (e.g., Pyruvate kinase deficiency). • Disorders of galactose metabolism (e.g., Galactosemia). • Disorders of fructose metabolism (e.g., Hereditary fructose intolerance).

5. Glycogen Storage Diseases (GSDs) • Caused by enzyme deficiencies affecting glycogen synthesis or breakdown. • Symptoms: Muscle weakness, hypoglycemia, hepatomegaly. • Examples: von Gierke's disease (GSD I), Pompe disease (GSD II).

6. von Gierke's Disease (GSD I) • Deficiency: Glucose-6-phosphatase. • Clinical features: Severe fasting hypoglycemia, hepatomegaly, lactic acidosis. • Treatment: Frequent feeding, cornstarch supplementation.

7. Pompe Disease (GSD II) • Deficiency: Acid alpha-glucosidase (lysosomal enzyme). • Clinical features: Muscle weakness, cardiomegaly, respiratory issues. • Treatment: Enzyme replacement therapy.

8. Disorders of Glycolysis • Caused by defects in enzymes involved in the glycolytic pathway. • Example: Pyruvate kinase deficiency. • Symptoms: Hemolytic anemia, fatigue.

9. Pyruvate Kinase Deficiency • Deficiency: Pyruvate kinase (key enzyme in glycolysis). • Clinical features: Hemolytic anemia, jaundice. • Treatment: Blood transfusions, splenectomy in severe cases.

10. Disorders of Galactose Metabolism • Galactosemia: Inability to metabolize galactose due to enzyme deficiencies. • Types: Classic galactosemia (GALT deficiency), Galactokinase deficiency. • Symptoms: Jaundice, cataracts, developmental delay.