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


CONCLUSIONS
IEM are not uncommon in PICU. Simple biochemical tests and neuroimaging findings provide vital clues to the diagnosis of IEM.
Kamate
Mahesh
M
Department of Pediatrics, KLE University's J.N. Medical College and KLES PK Hospital, Belgaum, India. drmaheshkamate@gmail.com
Chetal
Vivek
V
Kulgod
Vijaylaxmi
V
Patil
Vishwanath
V
Christopher
Rita
R
D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015278:Intensive Care Units, Pediatric / Q000706:statistics & numerical data*; D008279:Magnetic Resonance Imaging; D008297:Male; D013058:Mass Spectrometry; D008661:Metabolism, Inborn Errors / Q000453:epidemiology / Q000378:metabolism / Q000473:pathology