Etiological Spectrum and Clinical Characteristics of Neonates with High Risk of Inborn Errors of Metabolism: A Five-year Retrospective Analysis

Objective:To investigate the etiological spectrum and clinical characteristics of neonates with high risk of neonatalonset inborn errors of metabolism(IEM)in neonatal intensive care unit(NICU).Methods:Markers in blood and urine of 859 neonates with high risk of IEM hospitalized in Children's Hospital of Fudan University from Sep 2007 to Aug 2012 were detected and analyzed by liquid chromatography-tandem mass spectrometry(LC-MS/MS)and gas chromatography-mass spectrometry(GC-MS)method.Etiological spectrum and clinical manifestations were analyzed in neonates confirmed with IEM.Results: In the 859 neonates,a total of 22 cases(2.7%)were diagnosed with IEM.Among the 22 cases,11 cases(50%)were suffered from amino acid metabolic diseases,in which maple syrup urine disease(7 cases)was the most common.The other 11 cases(50%)were diagnosed with organic acid metabolic diseases,in which methylmalonic acidemia(8 cases)was the most common.Their clinical manifestations varied from apastia,vomitting to convulsion,and were mainly digestive system or nervous system symptoms followed by a short‘normal'period after birth.Conclusions:The neonates with high risk of IEM have complicated etiologies,and methylmalonic acidemia and maple syrup urine disease are the most common diseases.Pediatricians should recognize the importance of early utilization of combination of LC-MS/MS and GC-MS in detection of IEM for high risk neonates in NICU and thus achieve early diagnosis and invention.