glycogen storage diseases

Question 1

describe von gierke’s disease

• type #
• defective enzyme
• clinical features
• organ affected
• glycogen structure in the affected organ

Answer 1

von gierke’s disease

• type #: 1
• defective enzyme: glucose-6-phosphatase
• clinical features:
  
  • massive enlargement of liver
  • failure to thrive
  • severe hypoglycemia, ketosis, hyperuricemia, hyperlipemia
• organ affected: liver and kidney
• glycogen structure in the affected organ: increased amount, normal structure

Question 2

describe pompe’s disease

• type #
• defective enzyme
• clinical features
• organ affected
• glycogen structure in the affected organ

Answer 2

pompe’s disease

• type #: 2
• defective enzyme: alpha-1,4-glucosidase
• clinical features: cardiorespiratory failure causes death, usually before age 2
• organ affected: liver, heart, muscle
• glycogen structure in the affected organ: massive increase in amount, normal structure

Question 3

describe cori’s disease

• type #
• defective enzyme
• clinical features
• organ affected
• glycogen structure in the affected organ

Answer 3

cori’s disease

• type #: 3
• defective enzyme: amylo-1,6-glucosidase (lysosomal)
• clinical features: like type 1, but milder
  
  • massive enlargement of liver
  • failure to thrive
  • severe hypoglycemia, ketosis, hyperuricemia, hyperlipemia
• organ affected: muscle and liver
• glycogen structure in the affected organ: increased amount, short outer branches

Question 4

describe andersens disease

• type #
• defective enzyme
• clinical features
• organ affected
• glycogen structure in the affected organ

Answer 4

andersens disease

• type #: 4
• defective enzyme: branching enzyme (alpha-1,4 ->->alpha-1,6)
• clinical features:
  
  • progressive cirrhosis of the liver
  • liver failure causes death before age 2
• organ affected: liver
• glycogen structure in the affected organ: normal amount, very long outer branches

Question 5

describe mcardles disease

• type #
• defective enzyme
• clinical features
• organ affected
• glycogen structure in the affected organ

Answer 5

mcardles disease

• type #: 5
• defective enzyme: phosphorylase
• clinical features:
  
  • limited ability to perform strenuous exercise due to painful muscle cramps
  • otherwise patient is normal and well developed
• organ affected: muscle
• glycogen structure in the affected organ: moderately increased amount, normal structure

Question 6

describe hers’ disease

• type #
• defective enzyme
• clinical features
• organ affected
• glycogen structure in the affected organ

Answer 6

hers’ disease

• type #: 6
• defective enzyme: phosphorylase
• clinical features: like type 1, but milder course
  
  • massive enlargement of liver
  • failure to thrive
  • severe hypoglycemia, ketosis, hyperuricemia, hyperlipemia
• organ affected: liver
• glycogen structure in the affected organ: increased amount

Question 7

describe type 8 glycogen storage disease

Answer 7

type 8

• defective enzyme: phosphorylase kinase
• clinical features: mild liver enlargement, mild hypoglycemia
• organ affected: liver
• glycogen structure in the affected organ: increased amount, normal storage