Abstract

Pyruvate dehydrogenase complex deficiency is a rare genetic disorder that can lead to severe metabolic consequences. We present the case of a young adult with pyruvate dehydrogenase complex deficiency who presented with progressive shortness of breath and subsequently required intubation in the setting of severe lactic acidemia. After resuscitation and extubation, a targeted history identified that the patient had eaten 3 grilled cheese sandwiches just before admission. In these rarely encountered cases, both detailed clinical history-gathering as well as multidisciplinary provider coordination is essential in ultimately implementing specialized dietary recommendations and thus preventing accelerated morbidity and mortality.

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