10/02/2023
This episode was initially mistaken for sepsis and, though recognized later as Organic Acidemia, it was quite late. The purpose of this case presentation by the Authors was to provide clues to the true nature of the disease and to make physicians aware about the possibility of Inborn error of metabolism (IEM).
IEM causes a group of hereditary metabolic diseases resulting from a lack of activity of 1 or more specific enzymes or defects in the transportation of proteins resulting in a block of metabolic pathway.
The need for screening for IEM arises out of the fact that most cases take to irreversible effects as time progresses. Probably, since it is considered rare, many physicians do not consider IEM until most frequent conditions have been ruled out.
Although it is individually rare, IEMs all together constitute a significant health problem causing increasing mortality and morbidity in infants.
An increase in the rate of identification of these disorders is directly related to clinical judgment and a lifesaving difference can be made by appropriate and timely care for the small number of babies with 1 of these disorders.
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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 ...
