Urinalysis and Body Fluids 6th Edition by Majorie DiLorenzo, Susan Strasinger

Exercise 31

Many uric acid crystals in a pediatric urine specimen may indicate:

A. Hurler syndrome

B. Lesch-Nyhan disease

C. Melituria

D. Sanfilippo syndrome

Step 1 of 2

Lesch-Nyhan disease:

It is a disorder related with purine metabolism inherited as sex linked recessive that causes excretion of uric acid crystals in urine.

• Deficiency of hypoxanthine guanine phosphoribosyltransferase enzyme is due to failure to inherit the gene producing this enzyme

• This deficiency causes uric acid accumulation in body

• Motor defects, tendency of self-destruction, mental retardation, renal calculi, and gout is found

• First sign of the disease is presence of uric acid crystals similar to orange sand in diapers

• In pediatric urine specimens, elevated uric acid crystal indicates Lesch-Nyhan disease

Therefore, “Lesch-Nyhan disease” is the indication when pediatric urine specimen is seen with many uric acid crystals. Hence, the correct answer is option.