L.8 Gluconeogenesis/glycogenolysis Diseases

Question 1

Type II: Pompe Disease

Answer 1

• Lysosomal a(1-4)Glucosidase deficiency
• Lysosomal enzyme deficiency
• Excessive glycogen concentrations in abnormal vacuoles in lysosomes
• Normal BGL
• Generalized effects
• Cardiomegaly

Question 2

Type V: Mcardle Syndrome

Answer 2

• Skeletal Muscle Glycogen Phosphorylase or Myophosphorylase deficiency
• Skeletal muscle
• No rise in blood lactate during exercise
• Myoglubinemia/myoglobinuria
• High glycogen levels with normal structure in muscle
• Normal BGL
• Temporary weakness/cramping after exercise

Question 3

Type Ia/Ib: Von Gierke Disease

Answer 3

• Glucose-6-phosphate Translocase or Glucose-6-Phosphatase deficiency
• Liver/kidney
• Severe fasting hypoglycemia
• Hyperlacticacidemia
• Hyperlipidemia
• Hyperuricemia
• Normal glycogen structure
• Fatty liver, hepato/renalmegaly
• growth retardation/delayed puberty

Question 4

Diabetes + Gluconeogenesis

Answer 4

Type I: Pancreatic B cells destroyed
-Lack of insulin = high glucagon/insulin ratio = gluconeogenesis always on = hyperglycemia
Type II: Insulin resistance
-Glucagon signalling is more efficient = gluconeogenesis always on = hyperglycemia
-Less GLUT4 on muscle/adipose cells = less glucose clearance from blood = hyperglycemia