Abstract Introduction While rare, inborn errors of metabolism occasionally evade detection during childhood. These diagnoses can lead to sudden onset of life-threatening multi-system organ failure requiring treatment in adult ICUs. Early recognition of patterns of abnormalities that can suggest an undiagnosed genetic disorder provides an opportunity to obtain rapid whole genome sequencing, which can facilitate diagnosis and the initiation of lifesaving treatment. Case Report A 34-year-old woman with a history of endometriosis and “fatty liver disease” was found unresponsive on the floor of her home after one day of nausea, vomiting, and confusion. She was intubated by EMS due to altered mental status. Initial pre-hospital glucose was 30 mg/dL, requiring D10 administration prior to hospital arrival. Admission labs were notable for mild anemia, elevated lactate (6.2), hyperammonemia (175), elevated CPK (3131), and profound acidemia (pH 7.08). Urine drug screen was negative. A broad infectious workup was negative. CT chest, abdomen, and pelvis was unrevealing. She was admitted to the ICU, where she was found to be in distributive shock requiring initiation of norepinephrine. A few hours later, she experienced a precipitous increase in pressor requirements followed by a ventricular-fibrillation cardiac arrest, which lasted 7 minutes. Her post-arrest labs were notable for hyperkalemia, prompting initiation of continuous renal replacement therapy. A similar decompensation including a second ventricular-fibrillation arrest occurred the following day, requiring 30 minutes of ACLS. The underlying etiology of the second arrest was unclear, as patient was on CRRT with normal potassium at this time. Given the lack of a unifying diagnosis and her constellation of laboratory abnormalities including persistent elevation in lactic acid, triglycerides, CK, and ammonia, concern was raised for a possible inborn error of metabolism. Rapid trio whole exome sequencing was performed, and was diagnostic for Very Long-Chain Acyl-Coenzyme A Dehydrogenase (VLCAD) deficiency. The patient was treated with triheptanoin. After an extended ICU and inpatient rehab course, she was discharged home with excellent functional status. Discussion Adult-onset episodic myopathic form of VLCAD deficiency is an inborn error of metabolism that is most frequently diagnosed in childhood; however, in some cases the diagnosis may be missed during early life. In adults, this condition presents with intermittent rhabdomyolysis, sometimes provoked by exercise; however, it can occur without a clear precipitant. This case demonstrates the utility of whole exome sequencing in the adult ICU, which can be a cost-effective test in appropriately selected patients. This abstract is funded by: None
Grammatico et al. (Fri,) studied this question.