Biochemistry Flashcards
1
Q
Von gierke
A
AR glucose 6 phosphatase deficiency Increased lactate, cholesterol,triglycerides and Uric acid levels Hepatomegaly Hypoglycemia Bleeding disorders Hepatic adenomas Enlarged kidneys
2
Q
Anderson disease
A
Brancher enzyme deficiency Failure to thrive Cirrhosis Liver failure Extreme hypotonia
3
Q
Coris disease
A
Debrancher enzyme deficiency Hypoglycemia Hepatomegaly Short stature Myopathy Normal lactate and uric acid Increased cholesterol and triglyceride level
4
Q
Hers disease
A
Hepatic phosphorylase deficiency
Hepatomegaly
Variable hypoglycemia
5
Q
My ardle disease
A
Muscle phosphorylase deficiency Pain, cramps Myoglobinuria Increased creative kinase Deficient lactate production
