Online ISSN: 2515-8260

Inborn error of metabolism disgusing as sepsis

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1Dr Sangeeta Choudhary, 2Dr Rahul Singh Bain, 3Dr Rashi, 4Dr. Ajit Singh

Abstract

Inborn errors of metabolism (IEM) are a genetically inherited disorder that has led to significant morbidity and mortality in the newborns and infant age group. The true prevalence of IEM in India is not known. Havingnon-specific clinical presentation and lack of a routine screening program for newborns in India, it mostly remain undiagnosed and under-reported. With a wide spectrum of nonspecific symptoms,misdiagnosis or delayed diagnosis is common, so our objective is toenhance knowledge and create awareness regarding the red flags of IEM among clinicians so that even slight suspicion of clinical symptoms should be followed by biochemical evaluation.

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