An 8-day-old boy is brought to the physician by his mother because of vomiting and poor feeding. The pregnancy was uncomplicated, and he was born at full term. He appears pale and lethargic. Physical examination shows diffusely increased muscle tone. His urine is noted to have a sweet odor. This patient's symptoms are most likely caused by the accumulation of which of the following?
APhenylalanine
BHomogentisic acid
CIsoleucine
DHomocysteine
EPhytanic acid
You are examining a 3-day-old newborn who was delivered vaginally without any complications. The newborn presents with vomiting, hyperventilation, lethargy, and seizures. Blood work demonstrates hyperammonemia, elevated glutamine levels, and decreased blood urea nitrogen. A CT scan demonstrates cerebral edema. Defects in which of the following enzymes would result in a clinical presentation similar to this infant?
ACarbamoyl phosphate synthetase I
BHomogentisate oxidase
CCystathionine synthase
DBranched-chain ketoacid dehydrogenase
EPhenylalanine hydroxylase
An investigator studying epigenetic mechanisms isolates histone proteins, the structural motifs involved in DNA binding and regulation of transcription. The peptide bonds of histone proteins are hydrolyzed and one type of amino acid is isolated. At normal body pH, this amino acid has a net charge of +1 . The investigator performs titration of this amino acid and obtains the graph shown. The isolated amino acid is most likely which of the following?
AProline
BLysine
CAspartate
DSerine
EHistidine
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