Approach to inborn errors of metabolism (acute) Quiz: Ace Your Exams
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A 3-month-old boy is sent to the emergency department by the pediatrician for further evaluation of failure to thrive and laboratory abnormalities. The patient was born full-term without complications. Formula feeding has been established, but weight has dropped from the 48th to the 3rd percentile. The parents report a responsive smile but note difficulty with lifting the head during tummy time. Temperature is 37°C (98.6°F), pulse is 150/min, respirations are 38/min, blood pressure is 90/55 mm Hg, and oxygen saturation is 98% on room air. On physical examination, the infant is irritable and hypotonic with a round, doll-like face. There is a protruding abdomen and mild hepatomegaly. Examination is otherwise normal. Laboratory studies obtained three hours after a feed are shown below. Which of the following additional laboratory findings would be expected?
| Laboratory value | Result |
| Blood gas | |
| pH | 7.3 |
| PaCO2 | 35 mmHg |
| HCO3 | 17 mEq/L |
| Serum chemistries | |
| Lactic acid | 4 mmol/L |
| Blood glucose | 30 mg/dL |
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