clinical features Flashcards
1
Q
what are the clinical features of type 1, von gierkes disease
A
- massive enlargement of the liver
- failure to thrive
- severe hypoglycemia, ketosis, hyperuricemia, hyperlipemia
2
Q
what are the clinical features of type 2, pompe’s disease
A
- cardiorespiratory failure causes death usually before age 2
3
Q
what are the clinical features of type 3, cori’s disease
A
like type 1, but milder course
- massive enlargement of the liver
- failure to thrive
- severe hypoglycemia, ketosis, hyperuricemia, hyperlipemia
4
Q
what are the clinical features of type 4, andersens disease
A
- progressive cirrhosis of liver
- liver failure causes death before age 2
5
Q
what are the clinical features of type 5 mcardle’s disease
A
- limited ability to perform strenuous exercise because of painful muscle cramps
- otherwise patient is normal and well developed
6
Q
what are the clinical features of type 6, hers’ disease
A
like type 1, but milder course
- massive enlargement of the liver
- failure to thrive
- severe hypoglycemia, ketosis, hyperuricemia, hyperlipemia
7
Q
what are the clinical features of type 8
A
- mild liver enlargement
- mild hypoglycemia
