Metabolic Diseases Flashcards
0
Q
High ocular pressure is caused by what?
A
High sorbitol concentration
1
Q
What is Tauri’s disease?
A
Defect in the muscle isozyme of PFK1
2
Q
What is essential fructosuria? How serious is it?
A
Deficiency in fructokinase. Not serious.
3
Q
What results from an aldolase B deficiency? How serious is this disease? Why?
A
Hereditary fructose intolerance. Very serious, because phosphates are used up and F-1-P gets backed up. No phosphates are available for other metabolic processes.
4
Q
What does galactokinase deficiency result in?
A
Cataracts in babies.
5
Q
What causes classic galactosemia?
A
GALT deficiency - serious disease now on the newborn screen
6
Q
What is Tauri’s disease?
A
muscle PFK-1 deficiency
7
Q
What results from red blood cell pyruvate kinase deficiency?
A
Anemia
