Glycogen Storage Disease - Enzymes
What disease is associated with a deficiency of glucose-6-phosphatase?
von Gierke
A patient comes in complaining of muscle weakness when exercising. Upon receiving their labs, you note an increase in glycogen but no other evidence of liver disease. What disease does this patient likely have? What is its cause?
McArdle
muscle glycogen phosphorylase
Patient presents c/o muscle weakness. Upon first impression, patient's growth appears stunted. Labs indicate anemia. What disease does this patient likely have?
Cause? Be specific
Tarui
deficiency of phosphofructokinase in muscle
What steps of of gluconeogenesis differ from those of glycolysis? What characteristics make these steps different? (2)
Extra Point: T/F: there are 4 different enzymes needed for gluconeogensis
1, 3, 8
Irreversible so they require different enzymes
Extra: True, another enzyme is needed for formation of oxaloacetate
What disease is associate with a deficiency in a-1,4 glucosidase? What type of enzyme is this?
Pompe
lysosomal
A young patient presents with unusual bloating. Per parent, patient seems to also have trouble breathing and is delayed in standing and learning how to walk though infant expresses interest in doing so. No GI complaints noted. Upon further examination, their X-ray shows an enlarged heart and labs are normal. What disease does this patient likely have. What is the possible cause?
Pompe
deficiency in lysosomal alpha-1,4 or alpha-1,6 glucosidase
Patient presents complaining of some nausea, lack of appetite, and occasional dizziness. On xray, liver in enlarged. Labs indicate mild low blood sugar. What disease? Cause? be specific
Hers
deficiency in hepatic glycogen phosphorylase
List the 3 main precursors for gluconeogenesis
lactate
glycerol
a-ketoacids
What disease is associated with a deficiency in branching enzymes?
Enzyme
Infant presents with jaundice, and delayed growth and weight gain. On X-ray, liver and spleen appear enlarged and labs are indicative of liver failure. What disease does this patient likely have? What is the cause? What is the prognosis or treatment options?
Andersen disease
deficiency in branching enxymes
often causes death by 2-5 years old; possibility for liver transplant
Labs indicate anemia with erythrocytes notably containing Heinz bodies>>>>>
G6PD deficiency
Where does gluconeogenesis occur?
Liver
What disease is associated with debranching enzymes? Give an example
Cori
a-1,6-glucosidase
Patient presents c/o dizziness and fatigue. On labs, blood sugar is low. Further evaluation of their glycogen shows short branches but with a16 branches not cleaved off. Xray indicates enlarged liver. What disease does this patient likely have?
Cori
Labs indicate anemia with erythrocytes, no Heinz bodies noted>>>>>
PKD deficiency
What 3 mechanisms are indirectly correlated with gluconeogenesis?
anaerobic glycolysis/Cori cycle
glucose-alanine cycle
hydrolysis of triglycerides
What disease is associated with McArdle disease? Be specific
glycogen phosphorylase in muscle
Patient is of short stature and presents with a protruding abdomen and c/o of severe dizziness, fatigue, and pain/swelling in jointnts. Xray indicates enlarged liver. Labs indicate hyperuricemia and lactic acidosis. What disease does this patient likely have? Cause?
von Gierke
glucose-6-phosphatase
List all 7 types of glycogen storage disease in the correct order
I: von Gierke
II: Pompe
III: Cori
IV: Andersen
V: McArdle
VI: Hers
VII: Tarui
What 2 hormones influence gluconeogensis regulation?
glucagon and cortisol