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

Exercise 23

Blue diaper syndrome is associated with:

A. Lesch-Nyhan syndrome

B. Phenylketonuria

C. Cystinuria

D. Hartnup disease

Step 1 of 2

Hartnup disease:

It is an inherited disorder, which is caused by conversion of large volume of tryptophan to indole.

• The indole is reabsorbed into blood stream from intestine then circulated to liver

• In liver, indole is converted to indican, which is excreted in urine

• Diagnosis is made when mother reports blue stain in her infant’s diaper, which is called as blue diaper syndrome

Therefore, “Hartnup disease” is associated with blue diaper syndrome. Hence, the correct answer is option.