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K.K. Nagar, India

Ratnakumari T.L.,Research ESI Corporation
Indian Journal of Practical Pediatrics | Year: 2010

Inborn Errors of Metabolism(IEM) are not very uncommon. They present as great mimics to common diseases of children with symptoms such as tachypnea, apnea, convulsions and dehydration. In the newborn they mimic sepsis with non specific symptoms and most often the presentation can be acute and catastrophic, referred to as 'metabolic distress'. Even though hundreds of IEM are described, making a diagnosis has been made simpler with advanced diagnostic tools like Tandem Mass Spectrometry (TMS) and genetic mutation studies which are currently available in India. With a 'staged evaluation' a diagnosis can be made and some of them can be treated effectively. This article is an attempt at giving a basic diagnostic approach for the management of a sick child, suspected to have IEM.

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