Biochemistry Flashcards
1
Q
Cori’s Disease
A
glycogen debranching enzyme deficiency
2
Q
hypertriglyceridemia
ketoacidosis
hepatomegaly
A
glycogen storage disease
3
Q
accumulation of abnormally short outer dextrin-like structures in the cytosol of hepatocytes w/o fatty infiltration of the liver
A
Cori disease = glycogen debranching enzyme deficiency
4
Q
Pompe’s disease
A
lysosomal enzyme acid maltase deficiency
CARDIOMEGALY & severe generalized hypotonia
NORMAL blood glucose levels
abnormal glycogen accumulation within lysosomes
5
Q
Von Gierke’s disease
A
glucose 6 phosphatase deficiency - only involves liver and renal tubule cells
- enzyme not present in muscle tissue
6
Q
signs of von Gierke’s disease
A
fasting hypoglycermia lactic acidosis hyperlipidemia hyperuricemia HEPATIC STEATOSIS
7
Q
McArdle’s syndrome
A
glycogen phosphorylase deficiency
8
Q
signs and symptoms of McArdle’s syndrome
A
decreased exercise tolerance muscle pain and cramping during exercise myoglobinuria very low blood lactate after exercise muscle biopsy = EXCESS GLYCOGEN
