Clinical characteristics of 12 cases with methylmalonic acidemia / 中国基层医药

ABSTRACT

Objective To investigate the clinical characteristics of methylmalonic acidemia.Methods Methylmalonic acidemia diagnosis and treatment of 12 cases of clinical data were collected,the clinical manifestations,laboratory examinations,gas chromatography/tandem mass spectrometry analysis of the measurement results of urine organic acids,blood gas analysis,glucose,lactic acid,ammonia and other characteristics were sumarized,and the clinical features and outcome of the situation were also sumarized.Results 1 year old first visit eight cases,12 cases,8 cases from rural areas;12 cases of major treatment complained of anorexia,poor spirit hospitalized one case;respiratory infection hospitalized five cases; seizure hospitalized three cases;weight gain admission,one case;vomiting admitted three cases,three cases of drowsiness,coma admitted one case,the movement behind the main complaint admitted two cases.After hospitalization check urine organic acid analysis found significantly increased methylmalonic acid,respectively,while ammonia,lactic acid increased,high blood sugar,high uric acid,low albumin,urine protein abnormalities,abnormal urine ketone bodies,abnormal increased anion gap,video science and abnormal electrophysiological examination.Diagnosed with methylmalonic acidemia,according to the case were given VitB12,betaine,folic acid,L-carnitine,limiting protein intake and other treatment.Symptomatic treatment improved in seven patients,two patients were lost;automatically discharged one case,two cases of death.Conclusion Methylmalonic acidemia based on clinical characteristics,so early detection,early diagnosis,early treatment will help to improve prognosis.