RESUMO
OBJECTIVE@#To explore the genetic basis for a neonate affected with Glutaric aciduria type I (GA-I).@*METHODS@#Targeted capture and high-throughput sequencing was carried out for the proband and her parents. Candidate variants were verified by Sanger sequencing.@*RESULTS@#The proband was found to harbor compound heterozygous variants of the GCDH gene, namely c.523G>A and c.1190T>C, which was derived from her father and mother, respectively.@*CONCLUSION@#The compound heterozygous variants of the GCDH gene probably underlay the GA-I in the patient.
Assuntos
Criança , Feminino , Humanos , Recém-Nascido , Erros Inatos do Metabolismo dos Aminoácidos/genética , Encefalopatias Metabólicas/genética , Glutaril-CoA Desidrogenase/genética , Sequenciamento de Nucleotídeos em Larga Escala , MutaçãoRESUMO
Fecal microbiota transplantation (FMT) is a treatment of transplanting a healthy human intestinal flora to the patient's gastrointestinal tract,in order to treat diseases by reconstructing the normal function of the intestinal flora.In recent years,fecal microbiota transplantation attracted more attention since many studies have demonstrated that fecal microbiota transplantation has great clinical value in the treatment of inflammatory bowel disease,autoimmune disease,irritable bowel syndrome,metabolic syndrome and other diseases.Intestinal tract which is an important human intestinal digestive organ has complex immune functions.Normal intestinal flora plays an important role in promoting the development of the immune system,maintaining normal immune function,and synergistically antagonizing pathogens.The fecal microbiota transplantation affects the receptor's immune function by reconstructing disorganized intestinal flora.In this paper,the effect of fecal microbiota transplantation on the intestinal immune system is reviewed.