clinical features

Question 1

what are the clinical features of type 1, von gierkes disease

Answer 1

• massive enlargement of the liver
• failure to thrive
• severe hypoglycemia, ketosis, hyperuricemia, hyperlipemia

Question 2

what are the clinical features of type 2, pompe’s disease

Answer 2

• cardiorespiratory failure causes death usually before age 2

Question 3

what are the clinical features of type 3, cori’s disease

Answer 3

like type 1, but milder course

• massive enlargement of the liver
• failure to thrive
• severe hypoglycemia, ketosis, hyperuricemia, hyperlipemia

Question 4

what are the clinical features of type 4, andersens disease

Answer 4

• progressive cirrhosis of liver

- liver failure causes death before age 2

Question 5

what are the clinical features of type 5 mcardle’s disease

Answer 5

• limited ability to perform strenuous exercise because of painful muscle cramps
• otherwise patient is normal and well developed

Question 6

what are the clinical features of type 6, hers’ disease

Answer 6

like type 1, but milder course

• massive enlargement of the liver
• failure to thrive
• severe hypoglycemia, ketosis, hyperuricemia, hyperlipemia

Question 7

what are the clinical features of type 8

Answer 7

• mild liver enlargement

- mild hypoglycemia