Profile of inborn errors of metabolism in a tertiary care centre PICU.

ABSTRACT

Objective. To study the clinico-investigative profile and outcome of patients with inborn errors of metabolism (IEM) presenting to the pediatric intensive care unit (PICU). Methods. Records of all patients admitted in tertiary care centre PICU between August 2007 and September 2008 with a diagnosis of IEM were retrieved the details of clinical presentation, laboratory results, treatment and outcome were noted and analysed. Results. Eleven (2.6%) out of 420 PICU admissions during the study period had a diagnosis of IEM with a high mortality rate of 36%. Clinical presentation was quite varied. Conclusion. IEM are not uncommon in PICU. Simple biochemical tests and neuroimaging findings provide vital clues to the diagnosis of IEM.