Metabolism — MCQs

An infant presents with vomiting after feeding. Benedict's test was positive for a non-glucose reducing substance. What is the most likely diagnosis?

A 45-year-old patient presents with symptoms of anemia, depigmented hair, and myelopathy. Which of the following mineral deficiencies is most likely associated with this clinical presentation?

A young boy with a thin build and long fingers presents with diminished vision. On examination, subluxation of the lens is observed, and cystathionine synthase deficiency is detected. Which amino acid should the patient be supplemented with?

A farmer complains of a skin rash that worsens with sun exposure and redness of the tongue. Maize is the staple in his diet. Which vitamin deficiency is likely responsible for these symptoms?

A 5 year old child was brought to the physician with a history of black urine. There is no history of fever or any other complaints. There is no growth retardation and all the developmental milestones are normal. The child is suspected to have an enzyme defect for metabolism of an aromatic amino acid. What is the enzyme deficient

A patient had dinner at 8 PM at night and does his blood sugar test at 7 AM in the morning. What is the major source of glucose at this time?

Which amino acid needs to be supplemented through diet in patient with cystathionine beta synthase deficiency

A patient on a maize diet presented with diarrhea, dementia and dermatitis. Which vitamin deficiency is responsible for these features

A 25-year-old man comes to the office because of pain in his left shoulder. He says that this pain started 3 years ago and has progressively worsened. He denies joint trauma, fever, dysuria, or morning stiffness. He says that his urine turns black after it is exposed to air and has done so since childhood. He has one sexual partner and they regularly use condoms. His pulse is 72/min, respiratory rate is 18/min, temperature is 37.2°C (99.0°F), and blood pressure is 135/80 mm Hg. Physical examination shows bilateral scleral darkening and point tenderness upon palpation of his right elbow, left knee, and shoulder. Leukocyte count is 6,000/mm3. Which of the following enzymes is most likely deficient in this patient?

A 5-year-old boy with developmental delays presents to his pediatrician’s office with an ‘itchy rash’ on the flexor surfaces of his knees, elbows, and around his eyelids. The patient’s mother notes that the rashes have had a relapsing-remitting course since the child was an infant. Vital signs are within normal limits. Physical examination shows hypopigmentation of the patient’s skin and hair, as well as a musty odor in his sweat and urine. Based on the patient’s symptoms and history, which of the following is the most appropriate dietary recommendation?