Analysis Of Clinical Features In 60 Cases Of Neonatal Methylmalonic Acidemia Patients

BackgroundMethylmalonic acidemia(MMA)is the most common type of abnormal metabolism of congenital organic acids,an autosomal recessive disease without obvious symptoms,which is easy to cause misdiagnosis and the conditions of the neonate are often critical.MMA is one of the most deadly diseases that cause the newborn death or disability.The prognosis can be partly improved by early discovery and early treatment.Currently the diagnosis of it relies mainly on gas chromatography mass spectrometry(GC/MS)analysis,but this method hasn’t been used as a conventional means of screening,so it is particularly important for clinical medicine to look for the meaningful characteristics and laboratory examination.ObjectiveThe study objective is to differentiate suspicious the high-risk children through the regressive analysis of the clinical symptoms and laboratory tests from 60 patients who have been diagnosed.Materials and MethodsAt the Division of Neonatology in the First Affiliated Hospital of Xinxiang Medical College and Kaifeng Children’s Hospital,from May 2009 to September 2015,we analyzed 60 MMA neonates diagnosed by GC/MS analysis,summarize the clinical symptoms and physicochemical treatment index,analyzed the more common clinical symptoms and laboratory positive indicators,moreover we randomly selected 60 cases of new born hypoxic-ischemic encephalopathy and 60 cases of new born sepsis for analysis and comparison.Results1.The main symptom of case group is feeding difficulty,refusing milk(53.3%),drowsiness and low response(53.3%),tachypnea(48.3%),unexplained metabolic acidosis(46.7%),leukopenia and(or)thrombocytopenia(45%),high lactic acidosis(31.7%),hyperammonemia(21.7%),repeatedly twitch(16.7%).2.Comparing case group with the control group by chi-square test,high lactic acidosis,leukopenia,thrombocytopenia and recurrent hypoglycemia was statistically significant.3.By conducting a chi-square and logistic regression analysis for two groups of illness data before and after the treatment,the results suggest the anti-infection treatment and respiratory nutrition support more than 72 hours of acidosis,feeding difficulties,low reaction,leukopenia and(or)thrombocytopenia was statistically different.4.Treatment and prognosis: This treatment is invalid in 60 cases.There are 41 cases of no treatment effect with Vit B12 treatment,7 deaths in the hospital,34 cases giving up treatment,27 cases of them died out of the hospital in follow-up,7cases lose to follow-up.11 cases given Vit B12 injection with the symptoms improved and long term follows up.8 cases who have family history cases without clinical manifestations,received oral L-carnitine,currently have been observed no obvious abnormalities in follow-up.Conclusions1.MMA is easy to be misdiagnosed as HIE,sepsis,clinical treatment effect is poor,and the conditions are easily deteriorated and suddenly repeated,resulting in death.2.Highly suspicious MMA symptom factors: hyperammonemia,acid poisoning,f eeding difficulties,poor response,leukocyte and(or)thrombocytopenia and more th an 72 hours anti-infection,respiratory therapy and nutrition support invalid.3.For the families and region which have good economic conditions,the metab olic diseases screening should be practiced as a routine examination program.