A Case of Organic Acidemia: Are Physicians Aware Enough?

Diversity of clinical presentation of inborn errors of metabolism (IEM) gives a diagnostic challenge to the practicing physicians. In recent years there have been dramatic advances in the diagnosis and treatment of these fatal diseases, which shows improved prognosis of many of these conditions. The need for screening for IEM arises out of the fact that most cases take to irreversible effects as time progresses. Here, the main challenge is to recognize the early signs and symptoms that are also common to sick infants with other diseases. We describe a 32-day-old female infant who was finally diagnosed as a case of IEM (organic acidemia).The baby had a history of multiple neonatal intensive care unit admission. She died during her last hospital admission. The purpose of our case presentation is to provide clues to the true nature of the disease and to make physicians aware about the possibility of IEM.

Mosleh T, Dey SK, Mannan MA. A Case of Organic Acidemia: Are Physicians Aware Enough? Euroasian J Hepato-Gastroenterol 2016;6(1):89-90.