De novo mutation loci and clinical analysis in a child with sodium taurocholate cotransport polypeptide deficiency: A case report

BACKGROUND: Sodium taurocholate cotransport polypeptide (NTCP) deficiency disease is a genetic metabolic disorder due to mutations in the SLC10A1 gene and impaired bile acid salt uptake by the basolateral membrane transport protein NTCP in hepatocytes. A variety of clinical manifestations and genetic mutation loci have been reported for this disease. However, specific therapeutic measures are lacking, and the long-term effects are unknown. CASE SUMMARY: An infant with elevated bile acids and behavioral neurodevelopmental delay failed to respond to bile acid-lowering therapy. Genetic testing for metabolic liver disease revealed that the child had NTCP deficiency due to the SLC10A1 mutation: c.422dupA (p.Y141X), which is a novel mutation site. The current follow-up revealed a gradual decrease in bile acid levels after 1 year of age, but the child still had behavioral neurodevelopmental delays. CONCLUSION: The clinical manifestations, genetic characteristics, treatment and long-term prognosis due to NTCP deficiency remain poorly defined and need to be further confirmed by more studies and reports.