Metabolism — MCQs

A 1-year-old male with a history of recurrent pseudomonal respiratory infections and steatorrhea presents to the pediatrician for a sweat test. The results demonstrate a chloride concentration of 70 mEq/L (nl < 40 mEq/L). Which of the following defects has a similar AUTOSOMAL RECESSIVE mode of inheritance as the disorder experienced by this patient?

A 6-month-old boy is brought to a pediatrician by his parents for his first visit after they adopt him from a European country. His parents are concerned about the boy’s short episodes of shaking of his arms and legs; they believe it might be epilepsy. They also note that the child is less responsive than other children of his age. The family is unable to provide any vaccination, birth, or family history. His pulse is 130/min, respiratory rate is 28/min, and blood pressure is 90/50 mm Hg. The boy has a light skin tone and emits a noticeable musty body odor. Which of the following should be supplemented in this patient’s diet?

Myeloperoxidase (MPO) is a heme-containing molecule that is found in the azurophilic granules of neutrophils. Upon release, the enzyme catalyzes hypochlorous acid production during the phagocytic response. In the setting of pneumonia, which of the following clinical findings is most directly associated with myeloperoxidase activity?

A 24-year-old man is running a marathon. Upon reaching the finish line, his serum lactate levels were measured and were significantly increased as compared to his baseline. Which of the following pathways converts the lactate produced by muscles into glucose and transports it back to the muscles?

A 33-year-old man presents with yellowing of the eyes. He says symptoms onset acutely 3 days ago and have not improved. He says he has had similar episodes for the past 10 years. Each episode is self-limited, lasting no more than 3–5 days. The patient denies any recent history of nausea, weight loss, abdominal pain, light-colored stools, dark urine, or pruritus. Current medications are herbal supplements and a multivitamin. The patient is afebrile and vital signs are within normal limits. His BMI is 32 kg/m2. Physical exam is unremarkable. Laboratory findings are significant for the following: Total bilirubin 3 mg/dL Direct bilirubin 0.2 mg/dL AST/ALT/Alkaline phosphatase Normal Hematocrit/lactate dehydrogenase (LDH)/haptoglobin Normal Which of the following is the most likely diagnosis in this patient?

A 2-month-old boy is brought to the emergency department 25 minutes after having a seizure. He has had multiple seizures during the past week. His mother has noticed that he has become lethargic and has had a weak cry for the past month. He was born at 37 weeks' gestation. He is at the 20th percentile for height and 15th percentile for weight. His temperature is 36.7°C (98°F), respirations are 50/min, and pulse is 140/min. Examination shows a soft and nontender abdomen. The liver is palpated 4 cm below the right costal margin; there is no splenomegaly. Serum studies show: Na+ 137 mEq/L Cl- 103 mEq/L K+ 3.9 mEq/L Glucose 32 mg/dL Calcium 9.6 mg/dL Total cholesterol 202 mg/dL Triglycerides 260 mg/dL Lactate 4.2 mEq/L (N = 0.5 - 2.2 mEq/L) A deficiency of which of the following enzymes is the most likely cause of this infant's symptoms?

A 3-week-old male is brought to the emergency department because of increasing lethargy. He was born at home without prenatal care or neonatal screening and appeared to be normal at birth. Despite this, his parents noticed that he would vomit after breastfeeding. He then progressively became more lethargic and began to have a few episodes of diarrhea after feeding. His parents do not recall any significant family history and neither of his siblings have had similar symptoms. Upon presentation, the infant is found to be generally unresponsive with mild hepatomegaly. Physical exam further reveals signs of clouding in the lenses of his eyes bilaterally. The levels of which of the following metabolites will be most dramatically elevated in this patient?

A 12-year-old girl is brought to the physician by her mother 2 hours after cutting her hand while playing in the yard. Examination of the right hand shows a 2-cm laceration on the thenar region of the palm with some surrounding tenderness and erythema. The right palm appears mildly swollen in comparison to the left. In response to this patient's injury, the endothelial cells lining the blood vessels of the affected area express increased numbers of cellular adhesion molecules. Which of the following mediators is most likely directly responsible for the described change?

A researcher discovers a new inhibitor for 3-hydroxy-3-methyl-glutaryl-coenzyme A reductase that she believes will be more effective than current drugs. The compound she discovers uses the same mechanism of inhibiting the target enzyme as current drugs of this class; however, it has fewer off target effects and side effects. Therefore, she thinks that this drug can be used at higher concentrations. In order to study the effects of this compound on the enzyme, she conducts enzyme kinetics studies. Specifically, she plots the substrate concentration of the enzyme on the x-axis and its initial reaction velocity on the y-axis. She then calculates the Michaelis-Menten constant (Km) as well as the maximum reaction velocity (Vmax) of the enzyme. Compared to values when studying the enzyme alone, what will be the values seen after the inhibitor is added?

An investigator is studying a hereditary defect in the mitochondrial enzyme succinyl-CoA synthetase. In addition to succinate, the reaction catalyzed by this enzyme produces a molecule that is utilized as an energy source for protein translation. This molecule is also required for which of the following conversion reactions?