Galactosemia

Question 1

prevalence of classical galactosemia?

Answer 1

1:30 000 - 60 000

Question 2

What type of disease is this in relation to genetics?

Answer 2

autosomal recessive–heterozygs. clinically normal while homozygs can’t tolerate the smallest amount of galactose

Question 3

Sypmtoms

Answer 3

vomiting, diarrhea, enlarged liver, hemolysis, cataracts, mental retardation, jaundice

Question 4

What are the main problems when UDP-glu is no longer being synthesized?

Answer 4

glycogen synthesis decreases; lactose synthesis decreases, UDP-glucuronate synthesis decreases

Question 5

What does gal-1-p inhibit?

Answer 5

G6P DH, G6Pase, PGM

Question 6

how is galactitol formed?

Answer 6

gal–aldose reductase–>galactitol + NADP

Question 7

where is aldose reductase found?

Answer 7

liver, lens, seminal vesicles, nerve tissus; only catalyzes gal–>galactitol when gal levels are really high

Question 8

prevalence on nonclassical galactosemia?

Answer 8

1:100 000

Question 9

the binding of Protein B to Protein A of lactate synthase lowers the Km from 1200 mM to 1mM allowing UDP-gal to be transferred to glucose much quicker

Answer 9

ye

Question 10

what is lactose intolerance due to?

Answer 10

a lack in the lactase enzyme–can’t degrade lactose, leaves it to your GI bacteria–> produces methane and hydrogen gas–>lactate produced draws water into intestine resulting in diarrhea