A 3-week old boy is brought to the physician for the evaluation of lethargy, recurrent vomiting, and poor weight gain since birth. Physical examination shows decreased skin turgor and a bulging frontal fontanelle. Serum studies show an ammonia concentration of 170 μmol/L (N < 30) and low serum citrulline levels. The oral intake of which of the following nutrients should be restricted in this patient?
AGluten
BLactose
CFructose
DProtein
EVitamin A
After being warned by the locals not to consume the freshwater, a group of American backpackers set off on a week-long hike into a region of the Ecuadorean Amazon forest known for large gold mines. The group of hikers stopped near a small stream and used the water they filtered from the stream to make dinner. Within the next half hour, the hikers began to experience headaches, vertigo, visual disturbances, confusion, tachycardia, and altered levels of consciousness. Which of the following enzymes was most likely inhibited in this group of hikers?
ANADH dehydrogenase
BATP synthase
CCytochrome c oxidase
DCytochrome bc1 complex
ESuccinate dehydrogenase
A 2-day-old male is seen in the newborn nursery for repeated emesis and lethargy. He was born at 39 weeks to a 24-year-old mother following an uncomplicated pregnancy and birth. He has been breastfeeding every 2 hours and has 10 wet diapers per day. His father has a history of beta-thalassemia minor. Laboratory results are as follows: Hemoglobin: 12 g/dL Platelet count: 200,000/mm³ Mean corpuscular volume: 95 µm³ Reticulocyte count: 0.5% Leukocyte count: 5,000/mm³ with normal differential Serum: Na+: 134 mEq/L Cl-: 100 mEq/L K+: 3.3 mEq/L HCO3-: 24 mEq/L Urea nitrogen: 1 mg/dL Creatinine: 0.6 mg/dL Ammonia: 150 µmol/L (normal: 50-80 µmol/L) Which of the following is the most likely diagnosis?
APhenylketonuria
BOrotic aciduria
CAlkaptonuria
DOrnithine transcarbamylase deficiency
EBeta-thalassemia minor
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