#23 Jordan

[IMG SURVIVOR]

What aminoacids will be deficient in a patient with homocystinuria?




















CYSTEIN
ORNITHINE
LYSINE
ARGININE

[md90]

can also be r/t methionine synthase deficiency where it catalyzes from homocysteine to Methionine

[st_55]

hey guys..correct me if i am wrong..but with homocystinuria..you have an elevation in cysteine and decrease in methionine due to the defiency in methionine synthase.

cystinuria is the inherited defect where there is a renal tubular defect and you have elevated levels of cysteine, ornithine, lysine and arginine...people with this defect are predisposed to having kidney stones.

[IMG SURVIVOR]

Bump this thread

[drhardy]

I just remember COAL for this

[IMG SURVIVOR]

I just remember COAL for this
COLA for me:)

[cooolguy]

I think that st_55 is correct for this thread. There are two conditions, homocystinuria and cystinuria

Cystinuria refers to the failure of reabsorption of the COAL amino acids in the kidneys and somewhat in the small intestine (because they use the same transporters). The main amino acid to be concerned with is cysteine because it can precipitate and form kidney stones under high concentrations

whereas

Homocystinuria is the metabolic disorder which is caused by defective methionine breakdown due to the faulty enzyme cystathione (beta) synthase. This results in cardiovascular problems similar to Marfan's and a characteristic dislocation of the lens.

Hope it helps