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

Exercise 18

State the significance of increased uric acid crystals in newborns’ urine.

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

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

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