Objective: To probe into the clinical manifestation

laboratory examination

diagnosis and treatment outcome of very long-chain acyl-CoA dehydrogenase deficiency (VLCADD)

and the relationship between clinical phenotype and genotype. Methods: A total of 16 children with VLCADD after neonatal screening and clinical diagnosis in our hospital from Jun. 2013 to Jun. 2019 were extracted. Clinical manifestation

laboratory examination and genotype were retrospectively analyzed. Results: Among the 16 cases

there were 5 males and 11 females

aged from 7 months to 10 years. There were 3 cases (18.75%) of myocardial type

5 cases (31.25%) of liver type

7 cases (43.75%) of muscular type

and 1 case was lost to follow-up. There were 3 children with myocardial type died

2 children with liver type died

and there was no death for muscular type. A total of 28 different genotypes were detected in 16 children

and 12 of them were unreported new mutations. Among the 28 genotypes

there are 24 point mutations

3 small fragment deletions

and 1 single base insertion. Conclusion: VLCADD in severe children are start early and with critical onset

and it is difficult to reverse the outcome even if the baby was early diagnosed through neonatal screening. A variant with at least one null allele or a frame shift in the genotype may indicate a serious phenotype.