Macrocytic anemia Quiz: Ace Your Exams
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A 2-year-old boy is brought by his parents to the pediatrician’s office for evaluation of poor weight gain. The patient has failed to meet motor and cognitive milestones. His temperature is 37.1°C (98.8°F), blood pressure is 103/72 mmHg, pulse is 116/min, and respirations are 32/min. On physical exam, the patient’s height, weight, and head circumference are below the 5th percentile. Laboratory testing reveals the following results:
*Normal < 55 µmol/L
The patient is started on a trial of vitamin B12 and folate supplements. However, a follow-up visit one month later reveals no improvement of symptoms. The enzyme deficient in this patient is normally involved in the production of which of the following substances?
| Laboratory value | Result |
| Hemoglobin | 7.6 g/dL |
| Mean Corpuscular Volume | 107 mm3 |
| Ammonia* | 43 µmol/L |
The patient is started on a trial of vitamin B12 and folate supplements. However, a follow-up visit one month later reveals no improvement of symptoms. The enzyme deficient in this patient is normally involved in the production of which of the following substances?
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