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.
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.
Authors: René Santer; Ralph Fingerhut; Uta Lässker; Patrick J Wightman; David R Fitzpatrick; Bernhard Olgemöller; Adelbert A Roscher Journal: Clin Chem Date: 2003-04 Impact factor: 8.327
Authors: Philippe Jouvet; Guy Touati; Fabrice Lesage; Laurent Dupic; Marisa Tucci; Jean Marie Saudubray; Philippe Hubert Journal: Eur J Pediatr Date: 2006-08-29 Impact factor: 3.183
Authors: G S Salomons; C Jakobs; L Landegge Pope; A Errami; M Potter; M Nowaczyk; S Olpin; N Manning; J A J Raiman; T Slade; M P Champion; D Peck; D Gavrilov; R Hillman; G E Hoganson; K Donaldson; J P H Shield; D Ketteridge; M Wasserstein; K M Gibson Journal: J Inherit Metab Dis Date: 2006-12-20 Impact factor: 4.982