The following urinalysis results are obtained from a newborn:

-Based on the information provided,what is the infant's most probable disorder?
A) Lesch-Nyhan disease
B) Isovaleric acidemia
C) Maple syrup urine disease
D) Tyrosyluria

Question

The following urinalysis results are obtained from a newborn:
 
-Based on the information provided,what is the infant's most probable disorder?
A) Lesch-Nyhan disease 
B) Isovaleric acidemia 
C) Maple syrup urine disease 
D) Tyrosyluria

Quizplus · Accepted Answer

The presence of "maple syrup" smell in the urine of newborns along with elevated levels of branched-chain amino acids is indicative of maple syrup urine disease, which is caused by deficiencies in enzymes involved in the catabolism of these amino acids. Lesch-Nyhan disease, isovaleric acidemia, and tyrosyluria do not present with the characteristic "maple syrup" smell in the urine.

The Following Urinalysis Results Are Obtained from a Newborn