A Case Report Of Methylmalonic Acidemia With Renal Injury As The First Symptom And Review Of Literature

Objective: To analyze the clinical characteristics of methylmalonic acidemia with renal injury as the first symptom,improve the clinical understanding of atypical cases,summarize the experience of diagnosis and treatment,and reduce missed diagnosis and misdiagnosis.Methods: Analyse the history,clinical manifestation,auxiliary examination and diagnosis and treatment of a case of atypical methylm-alonic academia with unexplained proteinuria for more than 11 years as the main complaint indetail,and review the relevant literature.Results: The child,male,12 years old,the main complaint was unexplained proteinuria for more than 11 years.When the child was 1 years old,he was found to have urinary protein during hospitalization due to fever.He did not show obvious neurological symptoms or acidosis.After that,the urine protein was continuously checked,and the etiology of proteinuria was not clear in various hospitals.When he came to our hospital,we found that he had mental retardation in addition to kidney injury.So check the homocysteine,then found abnormally.For further screening of hereditary metabolic diseases by tandem mass spectrometry.The results showed that C3,C3/C2 and urinary methylmalonic acid were all higher than normal.After gene testing,it was clearly diagnosed as methylmalonic acidemia and homocysteinemia.Intramuscular injection of vitamin B12,betaine,oral L-carnitine treatment to control the disease.However,irreversible damage has been caused by long time untreated treatment,and there is no obvious improvement in renal injury and mental problems after treatment.Conclusion: The early diagnosis and treatment of methylmalonic acidemia is very important.Physicians need to be more vigilant about the disease.For children with unexplained kidney injury,with or without mental retardation,blood and urine genetic metabolic screening and gene detection should be performed timely to reduce the missed diagnosis of atypical methylmalonic acidemia,so that children can get timely and correct treatment and improve their prognosis.