A 7-year-old medically complex girl was admitted for unexplained metabolic acidosis. Her history was significant for cerebral palsy, failure to thrive, developmental delay, feeding difficulties, and microcephaly. She was adopted from Bulgaria with no known past medical or family histories. Admission laboratory studies were significant for increased anion gap metabolic acidosis with an elevated lactate and urine pH of 5.0. The patient was initially managed on maintenance intravenous fluids with 10% dextrose with 0.22% normal saline and 40 mEq/L of sodium bicarbonate. Oral food and fluids were withheld while additional laboratory testing was conducted. Through genetic testing, the patient was diagnosed with pyruvate dehydrogenase deficiency. She was started on a ketogenic diet and clinically improved. Since discharge, she has continued to follow up with a geneticist and metabolic dietitian. This case highlights the proper evaluation of a patient who presents with metabolic acidosis.

A 7-year-old girl with history of cerebral...

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