A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis.

Among etiologies of hyperammonemic emergencies, infection must be considered in certain clinical contexts, particularly among immunocompromised individuals. Although Cryptococcus neoformans is known to be urease-producing, to our knowledge it has not previously been described as a cause of hyperammonemia in patients. We report an immunocompromised man with acute on chronic kidney disease with hyperammonemic crisis due to Cryptococcal meningitis and fungemia. It is important to be aware of C. neoformans as a possible cause of hyperammonemia.

Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant.

Although individuals of Amish descent with propionic acidemia (PA) are generally thought to have a milder disease phenotype, we now have a better understanding of the natural history of PA in this population. Here we describe two Amish patients with emergent presentations of PA, one with metabolic decompensation and another with cardiogenic shock. PA can present with life-threatening metabolic decompensation or an adult-onset severe cardiomyopathy. We discuss critical clinical implications of this observation.