Hyperammonemia causes and effects — MCQs

A 23-year-old man presents to the emergency department for altered mental status after a finishing a marathon. He has a past medical history of obesity and anxiety and is not currently taking any medications. His temperature is 104°F (40°C), blood pressure is 147/88 mmHg, pulse is 200/min, respirations are 33/min, and oxygen saturation is 99% on room air. Physical exam reveals dry mucous membranes, hot flushed skin, and inappropriate responses to the physician's questions. Laboratory values are ordered as seen below. Hemoglobin: 15 g/dL Hematocrit: 44% Leukocyte count: 8,500/mm^3 with normal differential Platelet count: 199,000/mm^3 Serum: Na+: 165 mEq/L Cl-: 100 mEq/L K+: 4.0 mEq/L HCO3-: 22 mEq/L BUN: 30 mg/dL Glucose: 133 mg/dL Creatinine: 1.5 mg/dL Ca2+: 10.2 mg/dL AST: 12 U/L ALT: 10 U/L Which of the following is the best next step in management?

A 38-year-old man presents to his physician with double vision persisting for a week. When he enters the exam room, the physician notes that the patient has a broad-based gait. The man’s wife informs the doctor that he has been an alcoholic for the last 5 years and his consumption of alcohol has increased significantly over the past few months. She also reports that he has become indifferent to his family members over time and is frequently agitated. She also says that his memory has been affected significantly, and when asked about a particular detail, he often recollects it incorrectly, though he insists that his version is the true one. On physical examination, his vital signs are stable, but when the doctor asks him where he is, he seems to be confused. His neurological examination also shows nystagmus. Which of the following options describes the earliest change in the pathophysiology of the central nervous system in this man?

A 36-year-old man is brought to the emergency department by his neighbor because of altered mental status. He was found 6 hours ago stumbling through his neighbor's bushes and yelling obscenities. The neighbor helped him home but found him again 1 hour ago slumped over on his driveway in a puddle of vomit. He is oriented to self but not to place or time. His temperature is 36.9°C (98.5°F), pulse is 82/min, respirations are 28/min, and blood pressure is 122/80 mm Hg. Cardiopulmonary exam shows no abnormalities. He is unable to cooperate for a neurological examination. Muscle spasms are seen in his arms and jaw. Serum laboratory studies show: Na+ 140 mEq/L K+ 5.5 mEq/L Cl- 101 mEq/L HCO3- 9 mEq/L Urea nitrogen 28 mg/dL Creatinine 2.3 mg/dL Glucose 75 mg/dL Calcium 7.2 mg/dL Osmolality 320 mOsm/kg Calculated serum osmolality is 294 mOsm/kg. Arterial blood gas shows a pH of 7.25 and lactate level of 3.2 mmol/L (N=< 1 mmol/L). Examination of the urine shows oxalate crystals and no ketones. This patient is most likely experiencing toxicity from which of the following substances?

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?

A 48-year-old man is brought to the emergency department by his wife 20 minutes after she witnessed him vigorously shaking for about 1 minute. During this episode, he urinated on himself. He feels drowsy and has nausea. He has a history of chronic alcoholism; he has been drinking 15 beers daily for the past 3 days. Before this time, he drank 8 beers daily. His last drink was 2 hours ago. He appears lethargic. His vital signs are within normal limits. Physical and neurologic examinations show no other abnormalities. On mental status examination, he is confused and not oriented to time. Laboratory studies show: Hematocrit 44.0% Leukocyte count 12,000/mm3 Platelet count 320,000/mm3 Serum Na+ 112 mEq/L Cl- 75 mEq/L K+ 3.8 mEq/L HCO3- 13 mEq/L Urea nitrogen 6 mEq/L Creatinine 0.6 mg/dL Albumin 2.1 g/dL Glucose 80 mg/dL Urgent treatment for this patient's current condition puts him at increased risk for which of the following adverse events?

A 2-day-old male infant is brought to the emergency department by ambulance after his parents noticed that he was convulsing and unresponsive. He was born at home and appeared well initially; however, within 24 hours he became increasingly irritable and lethargic. Furthermore, he stopped feeding and began to experience worsening tachypnea. This continued for about 6 hours, at which point his parents noticed the convulsions and called for an ambulance. Laboratories are obtained with the following results: Orotic acid: 9.2 mmol/mol creatinine (normal: 1.4-5.3 mmol/mol creatinine) Ammonia: 135 µmol/L (normal: < 50 µmol/L) Citrulline: 2 µmol/L (normal: 10-45 µmol/L) Which of the following treatments would most likely be beneficial to this patient?

A 36-year-old man is brought to the emergency department by his girlfriend because of increasing confusion for the past 6 hours. He drinks large amounts of alcohol daily and occasionally uses illicit drugs. He is lethargic and oriented only to person. Physical examination shows jaundice, hepatomegaly, and scattered petechiae over the trunk and back. Neurologic examination shows normal, reactive pupils and a flapping tremor when the wrists are extended. A drug with which of the following mechanism of action would be most appropriate for this patient's condition?

A newborn boy develops projectile vomiting 48 hours after delivery. He is found to be lethargic, with poor muscle tone, and is hyperventilating. Within hours, he suffers important neurological deterioration, leading to seizures, coma, and, ultimately, death. An autopsy is performed and the pathology team makes a diagnosis of a rare genetic disorder that leads to low levels of N-acetylglutamate. Which of the following enzymes would be secondarily affected by this process?

A 4-day-old boy is brought to the physician because of somnolence, poor feeding, and vomiting after his first few breast feedings. He appears lethargic. His respiratory rate is 73/min. Serum ammonia is markedly increased. Genetic analysis shows deficiency in N-acetylglutamate synthase. The activity of which of the following enzymes is most likely directly affected by this genetic defect?

A 4-year-old girl is brought to the physician by her mother because of fatigue and generalized weakness for 4 months. Examination shows decreased muscle tone. Her fasting serum glucose concentration is 41 mg/dL. The physician suspects a defect in one of the enzymes involved in the carnitine shuttle. Increased serum concentration of which of the following should most raise suspicion of a different diagnosis?