Clinical Analysis Of 10 Cases Of Methylmalonic Acidemia Characterized By Metabolic Encephalopathy

Objective:To raise the pediatrician’s understanding of the relationship between methylmalonic academia and metabolic encephalopathy.Methods:The clinical data of 10 cases of MMA who were diagnosed by gas chromatography-mass spectrometry and liquid chromatography-tandem mass spectrometry and hospitalized in our hospital from November 2014 to October 2017 was analyzed.Results:1.The age of onset was from 3 days to 1 year and 3 months.The major encephalopathy manifestations were convulsions,dystonia,disturbance of consciousness,personality change,mental retardation or lagging behind and vomiting and so on.2.The brain CT or MRI showed varying degrees of encephalatrophy,ventriculomegaly or abnormal white matter signal in 10 cases.4 cases were with the VEEG prompted epileptiform discharge.The level of glucose was decreased in 4 case.And 4 cases were with hyperhomocysteinemia.The levels of blood ammonia were increased in 3 cases.And 6 cases were with metabolic acidosis.The results of hepatic function tests were abnormal in 5 cases.2cases with gene detection showed MMACHC gene mutant.3.2 cases died at home after giving up therapy.8 cases received long-term therapy of vitamin B12,L-carnitine,betaine,clinic recovering,antiepileptic drugs and so on.4.The follow-up of 8 cases for a period ranging from 1 month to 3 years by Gesell development scale showed progress after treatment though varying degrees of developmental retardation could be found.Early diagnosis and timely intervention of children with mental development is less affected.Conclusions:1.MMA is often associated with metabolic encephalopathy,which could be life-threatening.2.We should carry out early screening of inherited metabolic diseases for those who have a positive family history and those who was with convulsions,disturbance of consciousness,metabolic acidosis,personality change,development retardation or retrogression,vomiting and so on with unknown reason.3.Early diagnosis and long-term adherence to treatment can effectively improve the prognosis of children.