Clinical analysis of inherited metabolic diseases in the neonatal intensive care unit / 中华实用儿科临床杂志

ABSTRACT

Objective To study the clinical characteristics of inherited metabolic disease(IMD) in the neonatal intensive care unit and to improve the ability of early diagnosis of the disease.Methods A total of 5 590 newborns were hospitalized in the Neonatal Intensive Care Unit (NICU),Fujian Maternity and Children Hospital between January 2012 and April 2015,and 340 neonates who were suspected of IMD consecutively were recruited.Tandem mass spectrometry and gas chromatography-tandem mass spectrometry were used to diagnose IMD.A retrospective study of analyzing the clinical characteristics of the patients of IMD in the NICU was conducted.Results Fifteen neonates were diagnosed as IMD,among whom methylmalonic academia,maple syrup urine disease,hyperphenylalaninemia,citrin deficiency,propionic acidemia,glutaric academia,ornithine transcarbamylase deficiency and primary carnitine deficiency were 5,2,2,2,1,1,1 and 1,respectively.Sixty-six point seven percent (10/15 cases) of IMD onset in the first week after birth were severe.Clinical presentations include the nervous was severe,digestive system and respiratory system symptoms,such as poor response,coma,lethargy,dystonia,convulsion,shortness of breath,dyspnea,milk refusal,diarrhea,jaundice,and so on.The main early manifestations were anorexia,lethargy,seizures and shortness of breath,which were nonspecific.Conclusions Clinical manifestations of IMD are nonspecific.The earlier onset of the disease is more serious,and early tandem mass spectrometry and gas phase chromatography-mass spectrometry are useful for early diagnosis and may guide early clinical intervention.