Cystine Disorders

Question 1

elevated amounts of amino acid cystine in the urine

Answer 1

Cystinuria

Question 2

due to the inability of the renal tubules to reabsorb cystine filtered by the glomerulus

Answer 2

Cystinuria

Question 3

Defective renal tubular transport of Cystine, Ornithine, Leucine, and Arginine (COLA)

Answer 3

Cystinuria

Question 4

COLA

Answer 4

Cystine
Ornithine
Leucine
Arginine

Question 5

Urine test for cystinuria

Answer 5

Cyanide-nitroprusside test
- red-purple

false (+): ketones and homocysteine

Question 6

defects in the metabolism of the amino acid methionine produce an increase in homocysteine throughout the body

Answer 6

Homocystinuria

Question 7

elevated levels of _______ can result in cataracts, intellectual disability, thromboembolic problems, stroke, and death

Answer 7

homocysteine

Question 8

screening of homocystinuria is performed using ____

Answer 8

MS/MS testing

Question 9

Treatment of homocystinuria

Answer 9

early detection and a change in diet alleviates metabolic problems

Question 10

urine test for homocystinuria

Answer 10

Silver nitroprusside
- red-purple