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Hyperammonemia and lactic acidosis in adults: Differential diagnoses with a focus on inborn errors of metabolism.

Tchan, Michel.
Rev Endocr Metab Disord; 19(1): 69-79, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29497930
The adult endocrinologist may be asked to consult on a patient for unexplained biochemical disturbances that could be caused by an underlying inborn error of metabolism. A genetic disorder is generally less likely to be the cause as these disorders are individually rare, however inborn errors of metabolism are collectively not infrequent and important to consider as they may be treatable and tragic outcomes avoided. Hyperammonemia or lactic acidosis are most often secondary markers of an acquired primary disease process, but they may be a clue to the presence of a genetic disorder. Herein is presented an approach to the differential diagnosis of elevated ammonia and lactate, and a brief discussion of management for when an inborn error is diagnosed.
Selo DaSilva