Objective To explore the clinical features and gene mutation of the very long chain acyl-CoA dehydrogenase deficiency,VLCADD. Method Collected and analyzed the clinical data and genetic result of a patient with recurrent hematuria after exercise. The literatures of reported cases were retrieved in CNKI, Wanfang database, PubMed, HGMD and other databases with "VLCADD, ACADVL" as the Keywords. Result The male patient was 11 years and 2 months old and was admitted to hospital due muscle pain with hematuria after repeated exercise. The clinical manifestation of the patient included post-exercise muscle pain, relieve red or strong brown urine, abnormal elevation of glutamylinase, creatine kinase and myoglobin indicating by blood biochemistry. The symptoms in patient were relieved quickly after symptomatic and supportive treatment. The motor and intelligence of the patient was normal previous. Analysis of the ACADVL gene of the patient revealed a compound heterozygous mutation, including a splice site mutation c.1146+6T>A and a nonsense mutation c.549C>G p.Tyr183Ter. There have been 10 literature including 29 cases of VLCADD reported in China since 2007. Cardiomyopathy was the main type of the early infantile onset disease. Cardiomyopathy type presented with incidence of dangerous and poor prognosis. There were 8 myopathic type cases reported and the prognosis of myopathic type was good. The clinical symptoms of VLCADD are various and quite different. There are 321 pathogenic or likely pathogenic mutations reported in ACADVL gene, mainly missense mutations. The relationship between genotype and phenotype needs further study.