A 3-day-old female infant presents with poor feeding, lethargy, vomiting after feeding, and seizures. Labs revealed ketoacidosis and elevated hydroxypropionic acid levels. Upon administration of parenteral glucose and protein devoid of valine, isoleucine, methionine, and threonine, and carnitine, the infant began to recover. Which of the following enzymes is most likely deficient in this infant?
ABranched-chain ketoacid dehydrogenase
BPropionyl-CoA carboxylase
CCystathionine synthase
DPhenylalanine hydroxylase
EHomogentisate oxidase
A 29-year-old female presents to the family physician concerned over the blue-black discoloration of her sclera and skin. She notes that at the end of her day, there are black stains in her underwear. The incomplete breakdown of which of the following amino acids is responsible for this presentation?
ALeucine
BValine
CTyrosine
DMethionine
EIsoleucine
You are counseling a mother whose newborn has just screened positive for a deficit of phenylalanine hydroxylase enzyme. You inform her that her child will require dietary supplementation of which of the following?
AAspartame
BNiacin
CHomogentisic Acid
DTyrosine
ELeucine
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