CYSTINE DISORDERS

Question 1

CYSTINOSIS vs CYSTINURIA

Answer 1

CYSTINOSIS - IEM

CYSTINURIA - Renal type

Question 2

DEFECT IN CYSTINURIA

Answer 2

DEFECTIVE TUBULAR REABSORPTION OF:
CYSTINE
ORNITHINE
LYSINE
ARGININE

Question 3

DEFECT IN CYSTINOSIS

Answer 3

Absence of the gene that code for the enzyme for cystine metabolism

Question 4

TESTS for cystinosis and cystinuria (+ result)

Answer 4

1. BRAND’S MODIFICATION OF LEGAL’S NITROPRUSSIDE: red-purple
2. Thin layer or ion exchange chromatography
3. High voltage electropheresis

Question 5

Defect in HOMOCYSTINURIA

Answer 5

Absence of the gene that codes for cystathione beta-synthase

Question 6

Test for HOMOCYSTENURIA

Answer 6

SILVER-NITROPRUSSIDE TEST: Red