SGrade/USMLE Step 1/Nutrition, Vitamins & Metabolic Disorders
Fat- and water-soluble vitamin deficiencies and toxicities, trace minerals, classic metabolic diseases, kwashiorkor vs marasmus, and refeeding syndrome.
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A 6-month-old infant is brought to the clinic for a routine check-up. The parents are recent immigrants from a region where iodized salt is not readily available. Physical examination reveals coarse facial features, an umbilical hernia, a large tongue, and generalized hypotonia. The infant's growth and developmental milestones are significantly delayed. Which of the following mineral deficiencies is the most likely cause of this patient's condition?
Examiner's Design Intent
To assess the student's ability to recognize the clinical presentation of congenital hypothyroidism (cretinism) and link it to a specific, preventable nutritional deficiency (iodine) based on epidemiological clues.
A 68-year-old man presents to the clinic complaining of fatigue, generalized weakness, and bleeding gums for the past two months. He lives alone and admits to a very poor diet, consisting mainly of toast and canned soup. Physical examination reveals swollen, purplish gums that bleed easily with palpation. He also has multiple perifollicular hemorrhages on his lower extremities. Which of the following vitamin deficiencies is the most likely cause of his symptoms?
Examiner's Design Intent
To assess the student's ability to recognize a classic vitamin deficiency syndrome (scurvy) based on specific clinical signs and symptoms and to differentiate it from other nutritional deficiencies.
A 2-year-old boy is brought to the emergency department after his parents noted his urine turning dark upon standing in his diaper. He is otherwise asymptomatic. Physical examination is unremarkable. Urinalysis shows dark brown-black urine after exposure to air. The patient is diagnosed with alkaptonuria. This condition is caused by a deficiency in which of the following enzymes?
Examiner's Design Intent
To assess the student's ability to recall and apply knowledge of specific enzyme deficiencies in amino acid metabolism, particularly tyrosine degradation, and correlate these with distinct clinical presentations. It test…
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