Purine and pyrimidine synthesis and metabolism disorders Quiz: Ace Your Exams

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An 8-month-old boy is brought to the physician by his parents due to poor growth. The mother is concerned that he is growing slower than other children. The patient is breastfed five times daily and recently started eating solid foods. The patient produces seven wet diapers daily and the urine frequently has a sandy orange appearance. He has not yet been able to sit upright or crawl. Temperature is 37.0°C (98.6°F), blood pressure is 100/56 mmHg, and pulse is 120/min. Weight is at the 5th percentile, height is at the 3rd percentile, and head circumference is at the 10th percentile. On physical examination, the patient is noted to have diffuse hypotonia. Laboratory testing is shown below. If untreated, this patient will most likely develop which of the following symptoms?  

Laboratory Value  Result
 Hemoglobin   12 g/dL 
 Mean corpuscular volume  110 µm3 
 Platelets count  200,000/mm3 
 Leukocyte count  5,000/mm3 
 Serum Sodium  139 mEq/L 
 Serum Potassium  3.8 mEq/L 
 Serum Calcium   8.6 mg/dL 
 Serum uric acid*  9.3 mg/dL 
*Reference Range: 3.7-8.6 mg/dL

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