Disorders of Fructose/Galactose Metabolism

Question 1

Essential Fructosuria enzyme defect

Answer 1

fructokinase

Question 2

inheritance of Essential Fructosuria?

Answer 2

AR

Question 3

Symptoms of Essential Fructosuria?

Answer 3

benign, fructose in blood and urine

Question 4

Fructose Intolerance enzyme defect

Answer 4

Aldolase B (Fructose-1-P Aldolase)

Question 5

Inheritance of Fructose Intolerance?

Answer 5

AR

Question 6

What accumulates in Fructose Intolerance?

Answer 6

Fructose 1 Phosphate

Question 7

Pathogenesis of Fructose Intolerance?

Answer 7

decreased available phosphate, which inhibits glycogenolysis and gluconeogenesis

Question 8

Clinical signs of Fructose Intolerance

Answer 8

hypoglycemia, jaundice, cirrhosis, vomiting

Question 9

inheritance of Galactokinase deficiency

Answer 9

AR

Question 10

What accumulates in Galactokinase deficiency?

Answer 10

Galactitol accumulates if galactose is present in diet.

Question 11

When do symptoms present in galactokinase deficiency/

Answer 11

when infant begins feeding breast milk or formula

Question 12

Symptoms of Galactokinase Deficiency?

Answer 12

galactosemia and galactosuria; infantile cataracts.

Question 13

What may present as failure to track objects or to develop a social smile.

Answer 13

Galactokinase Deficiency

Question 14

Classic Galactosemia what enzyme defect?

Answer 14

galactose-1-phosphate uridyltransferase

Question 15

inheritance of classic galactosemia

Answer 15

AR

Question 16

What accumulates in Classic Galactosemia?

Answer 16

Galactitol and galactose 1 phosphate

Question 17

Symptoms of classic galactosemia?

Answer 17

failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability

Question 18

Classic Galactosemia can increase risk for sepsis from what organism?

Answer 18

E Coli