Diseases

Question 1

Essential Fructosuria

Answer 1

Deficiency of Fructokinase
Relatively benign,

High blood fructose levels after meal containing it due to inefficient trapping of fructose in liver/kidney
Fructokinase is in liver, kidney, intestinal wall.

Question 2

Hereditary fructose intolerance

Answer 2

Aldolase B deficiency.

Severe hypoglycemia and hyperuricemia after a fructose meal.

Fructokinase traps the Fructose in liver/kidney cells as F-1-P, and then Aldolase B cannot process it. (Hexokinase generates F-6-P)

A phosphate sink, causing ATP depletion, and using up available Pi.

Inhibits Glycogen phosphorylase so glycogen reserves cant be used, and inhibits gluconeogenesis because ATP levels in the liver are so low.

Question 3

McArdles Disease

Answer 3

Gylcogen phosphorylase disorder.

Limited ability to perform strenuous exercise due to muscle cramps, which can be eleminated after prolonged light exercise.

Otherwise normal.

Relatively benign disorder.

Question 4

Galactosemia

Answer 4

Can result from deficiency of several enzymes

1) Galactokinase
2) Galactose-1-Phosphate Uridyl transferase
3) UDP-galactose 4 epimerase

these 3 enzymes convert galactose to UDP-glucose.

deficiency causes severe problems, mental retardation, liver, kidney damage, cataracts
Due to accumulation of galactose metabolism/breakdown intermediates.

Question 5

Wernicke-Korsakoff syndrome

Answer 5

Deficiency of transketolase and TPP

Question 6

Hemolytic anemia

Answer 6

Glucose-6-Phosphate dehydrogenase deficiency,
inhibits oxidative NADPH generating portion of Pent-Phos pathway.
Inhibits Glutathione Synthase,
Oxidative damage to RBCs.