Carbohydrate Disorders Flashcards
1
Q
inability to properly metabolize galactose to glucose.
A
Galactosuria
2
Q
The resulting galactosemia with toxic intermediate metabolic products results in infant failure to thrive combined with
A
liver disorders
cataracts
severe intellectual disability
3
Q
Galactosuria is caused by a deficiency of the following 3 enzymes
A
galactose-1-phosphate uridyl transferase (GALT)
galactokinase (GALK)
UDP-galactose-4-epimerase (GALE)
4
Q
causes the severe, possibly fatal, symptoms associated with
galactosemia
A
GALT deficiency
5
Q
s measured in the red blood cells as part of the protocol of the newborn heel puncture
A
GALK
6
Q
people with deficiencies in the other two enzymes still may produce galactosuria
A
but have negative newborn screening test
