Purine Disorders

Question 1

inherited as sex-linked recessive results in massive excretion of urinary uric acid crystals

Answer 1

Lesch-Nyhan Disease

Question 2

Failure to inherit the gene to produce the enzyme ___________ is responsible for the accumulation of uric acid throughout the body.

Answer 2

hypoxanthine guanine phosphoribosyltransferase

Question 3

Patients suffer from severe motor defects, intellectual disability, a tendency toward self-destruction, gout, and renal calculi.

Answer 3

Lesch-Nyhan Disease

Question 4

Usually development is normal for the _______

Answer 4

first 6 to 8 months

Question 5

first sign is uric acid crystals resembling

Answer 5

orange sand in diapers