Update on the diagnosis and management of neonatal intrahepatic cholestasis caused by citrin deficiency: Expert review on behalf of the Asian Pan-Pacific Society for Pediatric Gastroenterology, Hepatology, and Nutrition
Issued Date
2024-02-01
Resource Type
eISSN
15364801
Scopus ID
2-s2.0-85185705331
Pubmed ID
38374571
Journal Title
Journal of pediatric gastroenterology and nutrition
Volume
78
Issue
2
Start Page
178
End Page
187
Rights Holder(s)
SCOPUS
Bibliographic Citation
Journal of pediatric gastroenterology and nutrition Vol.78 No.2 (2024) , 178-187
Suggested Citation
Inui A., Ko J.S., Chongsrisawat V., Sibal A., Hardikar W., Chang M.H., Treepongkaruna S., Arai K., Kim K.M., Chen H.L. Update on the diagnosis and management of neonatal intrahepatic cholestasis caused by citrin deficiency: Expert review on behalf of the Asian Pan-Pacific Society for Pediatric Gastroenterology, Hepatology, and Nutrition. Journal of pediatric gastroenterology and nutrition Vol.78 No.2 (2024) , 178-187. 187. doi:10.1002/jpn3.12042 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/97413
Title
Update on the diagnosis and management of neonatal intrahepatic cholestasis caused by citrin deficiency: Expert review on behalf of the Asian Pan-Pacific Society for Pediatric Gastroenterology, Hepatology, and Nutrition
Author's Affiliation
National Center for Child Health and Development
Asan Medical Center
Royal Children's Hospital, Melbourne
National Taiwan University College of Medicine
King Chulalongkorn Memorial Hospital
Indraprastha Apollo Hospitals
Faculty of Medicine Ramathibodi Hospital, Mahidol University
Seoul National University College of Medicine
Saiseikai Yokohama-City Eastern Hospital
Asan Medical Center
Royal Children's Hospital, Melbourne
National Taiwan University College of Medicine
King Chulalongkorn Memorial Hospital
Indraprastha Apollo Hospitals
Faculty of Medicine Ramathibodi Hospital, Mahidol University
Seoul National University College of Medicine
Saiseikai Yokohama-City Eastern Hospital
Corresponding Author(s)
Other Contributor(s)
Abstract
Citrin deficiency is an autosomal recessive metabolic liver disease caused by mutations in the SLC25A13 gene. The disease typically presents with cholestasis, elevated liver enzymes, hyperammonemia, hypercitrullinemia, and fatty liver in young infants, resulting in a phenotype known as "neonatal intrahepatic cholestasis caused by citrin deficiency" (NICCD). The diagnosis relies on clinical manifestation, biochemical evidence of hypercitrullinemia, and identifying mutations in the SLC25A13 gene. Several common mutations have been found in patients of East Asian background. The mainstay treatment is nutritional therapy in early infancy utilizing a lactose-free and medium-chain triglyceride formula. This approach leads to the majority of patients recovering liver function by 1 year of age. Some patients may remain asymptomatic or undiagnosed, but a small proportion of cases can progress to cirrhosis and liver failure, necessitating liver transplantation. Recently, advancements in newborn screening methods have improved the age of diagnosis. Early diagnosis and timely management improve patient outcomes. Further studies are needed to elucidate the long-term follow-up of NICCD patients into adolescence and adulthood.