title: Acute management of sick infants with suspected inborn errors of metabolism.
abstract: Diagnosis of inborn errors of metabolism (IEM) such as an organic acidemia or urea cycle defects requires high index of suspicion in a critically ill infant as these conditions mimic common pediatric illnesses. Prompt initiation of the treatment is mandatory even if a definitive diagnosis is not established immediately. Initial screening investigations may give clues and help to classify these disorders in broad categories. It is of utmost importance to preserve samples for testing.
authors.affiliation: Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India. neerjaagarwal@yahoo.co.in
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
mesh_terms: D000208:Acute Disease; D002985:Clinical Protocols; D004638:Emergency Treatment; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis / Q000628:therapy* / Q000652:urine; D013048:Specimen Handling