Disorders of Amino Acid Metabolism — MCQs

Which amino acids accumulate in maple syrup urine disease?

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?

An infant is brought by his parents with complaints that his urine turns black on standing. Which of the following metabolic disorders is likely?

A 35-year-old man presents to the physician with arthritic pain in both knees along with back pain. He states that the pain has been present for months. The patient is afebrile, and his slightly swollen knee joints are neither hot nor tender to palpation; however the pain does restrict his motion. The cartilage of his ears appears slightly darker than normal. No tophi are present. A urine specimen is taken for analysis of uric acid content and turns black in the laboratory while standing. What is the most likely diagnosis at this point?

An investigator is studying the activity level of several different enzymes in human subjects from various demographic groups. An elevated level of activity of phosphoribosyl pyrophosphate synthetase is found in one of the study subjects. This patient is most likely to have which of the following conditions?

A 7-year-old boy is brought to the emergency department because of sudden-onset abdominal pain that began 1 hour ago. Three days ago, he was diagnosed with a urinary tract infection and was treated with nitrofurantoin. There is no personal history of serious illness. His parents emigrated from Kenya before he was born. Examination shows diffuse abdominal tenderness, mild splenomegaly, and scleral icterus. Laboratory studies show: Hemoglobin 9.8 g/dL Mean corpuscular volume 88 μm3 Reticulocyte count 3.1% Serum Bilirubin Total 3.8 mg/dL Direct 0.6 mg/dL Haptoglobin 16 mg/dL (N=41–165 mg/dL) Lactate dehydrogenase 179 U/L Which of the following is the most likely underlying cause of this patient's symptoms?

A 3-day-old female infant presents with poor feeding, lethargy, vomiting after feeding, and seizures. Labs revealed ketoacidosis and elevated hydroxypropionic acid levels. Upon administration of parenteral glucose and protein devoid of valine, isoleucine, methionine, and threonine, and carnitine, the infant began to recover. Which of the following enzymes is most likely deficient in this infant?

A 4-year-old boy is brought to a pediatrician by his parents for a consultation after his teacher complained about his inability to focus or make friends at school. They mention that the boy does not interact well with others at home, school, or daycare. On physical examination, his vital signs are stable with normal weight, height, and head circumference for his age and sex. His general examination and neurologic examination are completely normal. A recent audiological evaluation shows normal hearing, and intellectual disability has been ruled out by a clinical psychologist. Which of the following investigations is indicated as part of his diagnostic evaluation at present?

A 4-year-old boy is brought to the physician for a well-child examination. He started walking at 20 months of age. He can use a cup to drink but cannot use silverware. He speaks in 2-word sentences and can build a tower of 4 blocks. He can scribble but cannot draw a circle. He is above the 99th percentile for height and at the 15th percentile for weight. Vital signs are within normal limits. Examination shows bilateral inferior lens dislocation. His fingers are long and slender. He has a high-arched palate. The thumb and 5th finger overlap when he grips a wrist with the opposite hand. The skin over the neck can be extended and stretched easily. Which of the following is the most likely cause of these findings?

A previously healthy 24-year-old man is brought to the emergency department 30 minutes after an episode of loss of consciousness. He was standing in line at a bus stop when he suddenly became tense, fell down, and lost consciousness; this was followed by 4 minutes of violent jerky movements of his arms and legs. He was confused after the episode. He has no recollection of the event or its immediate aftermath. On arrival, he is alert and oriented to time, place, and person. His temperature is 37.7°C (99.4°F), pulse is 98/min, and blood pressure is 130/70 mm Hg. Physical examination shows blood in the mouth. Neurologic examination shows no focal findings. A CT scan of the head shows no abnormalities. Further evaluation of this patient is most likely to show which of the following laboratory findings?