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 An eight-week-old infant is...........  

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An eight-week-old infant is brought to clinic by his Old World Mennonite parents. They have noticed sweet-smelling urine in this child, and they also have a three-year-old daughter who has failed to meet developmental milestones. Upon evaluation of the infant's urine, which metabolite would you expect to be elevated?

A. Histidine

B. Homocystine

C. Homogentisate

D. Phenylalanine

E. Valine


Branched - chain ketoacid dehydrogenase deficiency - AKA maple syrup urine disease. Answer - E
it would be evident very early in life, first few days of life in it's classic form. These children die soon if untreated.


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