Analysis of inborn errors of metabolism in neonate intensive care unit

Objective:To ascertain the clinical symptoms and the resources required to care for these patients who suspected or confirmed diagnosis of inborn errors of metabolism.Methods:The dry blood filter papers were tested by LC-MS/MS among 29 neonates suspected to be with inborn errors of metabolism between December 2008 and October 2009.Before testing the filter papers should be punched and extracted into methanol solution with stable isotope labeled internal standards,then derivatized with butanolic-HCl.Results:8 of the 29 neonates (27.6%) were diagnosed with inborn errors of metabolism.Three with Methylmalonic Acidemia,two with tyrosinemia,one with Maple Syrup Urine Disease,one with Methylmalonic Acidemia and tyrosinemia.Four patients required invasive mechanical ventilation,six appear seriously metabolic acidosis.The median length of NICU stay was 3 days (rang,0 to 7 days) and 4 patients (50%) died.Conclusion:Inborn errors of metabolism may be as a primary diagnosis in some NICUs.Most of the patients not diagnosed prior to NICU admission.Patients with IEM stay in the NICU require aggressive support (invasive mechanical ventilation),and have a relatively short NICU stays,a higher mortality.These patients make a significant diagnostic and therapeutic challenge for pediatrician.