Metabolism — MCQs

A 25-year-old man presents to the emergency department after fainting at his investment banking office. He states that he has experienced intermittent headaches since high school, but has never fainted. He reports eating multiple small meals regularly throughout the day. He further notes that multiple family members have frequently complained about headaches. Physical exam reveals a well-nourished, well-built, afebrile man with BP 170/80, HR 55, RR 10. Chemistries reveal Na 147, K 3, Cl 110, HCO3 30, BUN 25, Cr 1.1, glucose 120. A biopsy of the tissue most likely at issue in this patient will reveal the most abnormal cellular amounts of which of the following?

A 54-year-old man is brought to the emergency department by his wife because of progressive nausea, vomiting, and right-sided flank pain for 2 days. The pain is colicky and radiates to the groin. He has a history of gout and type 2 diabetes mellitus. Current medications are metformin and allopurinol. He recently began taking large amounts of a multivitamin supplement after he read on the internet that it may help to prevent gout attacks. Physical examination shows right-sided costovertebral angle tenderness. Oral examination shows dental erosions. A CT scan of the abdomen shows an 8-mm stone in the right proximal ureter. Microscopic examination of a urine sample shows bipyramidal, envelope-shaped crystals. An increased serum concentration of which of the following is the most likely cause of this patient’s symptoms?

A 1-year-old boy is brought to his pediatrician for a follow-up appointment. He was recently diagnosed with failure to thrive and developmental delay. His weight is 7 kg (15.4 lb), height is 61 cm (24 in), and head circumference is 42 cm (16.5 in). The patient’s father had a younger sister who suffered from mental and physical delay and died at a very young age. The patient was able to raise his head at the age of 7 months and began to sit alone only recently. He babbles, coos, and smiles to other people. On presentation, his blood pressure is 75/40 mm Hg, heart rate is 147/min, respiratory rate is 28/min, and temperature is 36.4°C (97.5°F). He has a coarse face with small deep orbits, proptotic eyes, big lips, and gingival hyperplasia. His skin is pale with decreased elasticity. His lung and heart sounds are normal. Abdominal examination reveals diminished anterior abdominal wall muscle tone and hepatomegaly. Muscle tone is increased in all groups of muscles on both upper and lower extremities. The physician becomes concerned and performs testing for the suspected hereditary disease. A blood test shows increased lysosomal enzyme concentration in the serum and decreased N-acetylglucosamine-1-phosphotransferase (GlcNAc phosphotransferase) activity within the leukocytes. Which of the statements listed below describes the mechanism of the patient’s condition?

A 59-year-old man comes to the physician because of a 6-month history of numbness and burning sensation in his feet that is worse at rest. He has not been seen by a physician in several years. He is 178 cm (5 ft 10 in) tall and weighs 118 kg (260 lb); BMI is 37.3 kg/m2. Physical examination shows decreased sensation to pinprick, light touch, and vibration over the soles of both feet. Ankle jerk is 1+ bilaterally. His hemoglobin A1C concentration is 10.2%. Which of the following pathophysiological processes is most likely to be involved in this patient's condition?

A 7-year-old boy is brought to the hospital for evaluation, he is accompanied by agents from child protective services after he was rescued from a home where he was being neglected. He was found locked in a closet and says that he was fed only once every 2 days for the past month. On presentation, he is found to be extremely emaciated with protruding ribs and prominent joints. He is provided with an appropriate rehydration and nourishment therapy. Despite his prolonged nutritional deprivation, the patient demonstrates appropriate cognitive function for his age. The transporter responsible for preventing cognitive decline in this malnourished patient has which of the following characteristics?

A 36-year-old woman is fasting prior to a religious ceremony. Her only oral intake in the last 36 hours has been small amounts of water. The metabolic enzyme that is primarily responsible for maintaining normal blood glucose in this patient is located exclusively within the mitochondria. An increase in which of the following substances is most likely to increase the activity of this enzyme?

A neonate is noted to have very light skin, light blue eyes, and sparse blonde-white hair. The family states that the baby is much lighter in appearance than anyone else in the family. Both parents are Fitzpatrick skin type III with dark brown hair. On further exam, the baby's temperature is 98.4°F (36.9°C), blood pressure is 110/70 mmHg, pulse is 88/min, and respirations are 14/min. The patient is oxygenating well at SpO2 of 97% on room air with no respiratory distress. All reflexes are appropriate, and the APGAR score is 10. A referral is placed with Ophthalmology for a comprehensive eye exam. The condition is believed to be due to an enzyme deficiency, and a hair bulb assay is performed. Which of the following substrates should be incubated with the specimen in order to determine the activity of the enzyme in question for this disease?

A 40-year-old male with Down syndrome is brought to your clinic by his mother. She reports that over the past few months he has started having difficulty managing his daily routine at his assisted-living facility and no longer seems like himself. She says that last week he wandered away from the facility and was brought back by police. Additionally, he has stopped taking his regular antiepileptic medication, and she is concerned that he might have a seizure. TSH is checked and is normal. Which of the following is most likely to be responsible for this man's current presentation?

A 66-year-old homeless HIV-positive male presents with numbness in his hands and feet. The patient says that his symptoms started gradually a couple weeks ago and have slowly worsened. He describes numbness initially in just his fingertips and toes but it has now spread to involve his entire hands and feet. Past medical history is significant for HIV diagnosed many years ago, for which the patient has never sought treatment. The patient also has a long history of various illnesses, especially chronic diarrhea, but he is unable to remember any details. He currently takes no medications. The patient has been homeless for years, and he denies any alcohol or drug use. Review of systems is significant for a sore tongue. His temperature is 37°C (98.6°F), blood pressure is 100/65 mm Hg, pulse is 102/min, respiratory rate is 25/min, and oxygen saturation is 97% on room air. On physical exam, the patient is alert and oriented, his body habitus is cachectic, and his BMI is 17 kg/m2. His tongue appears erythematous and smooth with loss of papillae, but no lesions or evidence of infection is noted. Cardiac exam is normal apart from tachycardia. Lungs are clear to auscultation. His abdomen is soft and nontender with no hepatosplenomegaly. There is decreased 2-point discrimination in the hands and feet bilaterally. Strength in the hands and feet is 4/5 bilaterally. Reflexes are absent in the ankles. Gait is slightly wide-based and ataxic, and there is a positive Romberg sign. Which of the following is the most likely cause of this patient’s symptoms?

A 1-month-old boy is brought to the emergency department 25 minutes after having a seizure. His mother reports that he has become lethargic and does not cry as vigorously anymore. Examination shows muscular hypotonia and hepatomegaly. Arterial blood gas on room air shows metabolic acidosis. Serum studies show elevated levels of methylmalonic acid. A deficiency of which of the following types of enzymes is the most likely cause of this patient's condition?