Galactosemia Is a Genetic Defect in Which an Individual Is

question 21

Essay

Galactosemia is a genetic defect in which an individual is unable to correctly metabolize galactose.This results in high galactose levels in the blood and galactose-1-phosphate in the tissues.
a. If you were a physician treating a person with this genetic disorder,what suggestions would you make to avoid high galactose levels in the blood?
b. Galactosemia is often a problem in infants.Why would infants be more likely to develop galactosemia?
c. From what you know about the metabolism of galactose can you suggest why galactosemia is more common than fructosemia?
d. Galactosemia is a genetic defect that results from a mutation that results in high levels of galactose-1-phosphate in the blood.The individual is unable to make fully functioning enzymes to metabolize galactose but can still metabolize starch and glycogen.Can you suggest a possible candidate for the flawed enzyme?

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Definitions:

Micturition Reflex

A reflex leading to the urge to urinate, initiated by the stretching of the bladder.

Urinary Bladder

A muscular sac in the pelvis that stores urine from the kidneys before it is excreted out of the body through urination.

External Urinary Sphincter

A muscular mechanism that controls the retention and release of urine from the bladder.

Ureteral Openings

The points at which the ureters, tubes that carry urine from the kidneys, connect to the bladder.