Q: About a baby with PKU (AM-01)

H.C, a 4 month-old male infant, emigrated with his parents from a Latin American country to the United States a month ago. He was normal at birth but in the past several days a tremor in his extremities has appeared. Last night he presented gross twitching movements in his crib. When you examine the patient, you note a musty odor to the baby’s wet diaper.

 

Immediately you order a screening test for PKU and it results positive. Which of the following compounds can you expect that is elevated in this patient urine?

 a)     phenyl lactate

 

b)     leucine

 

c)      methyl propionate

 

d)     arginino succinate

 

e)     vanillyl mandelate

 

f)       Homogentisate 

 

 

 

 

 

 Answer