Liver transplantation in congenital disorders of glycosylation: A systematic review

OBJECTIVES: To synthesize patient-level evidence on indications, immunosuppression, outcomes, and residual extrahepatic disease after liver transplantation (LTx) in congenital disorders of glycosylation (CDG). METHODS: PubMed/MEDLINE was searched from inception to July 5, 2026, supplemented by backward and forward citation searching. Two reviewers independently screened records and full-text reports, linked duplicate patient descriptions, extracted data, and appraised reporting quality. Case reports and series providing individual-level LTx data were eligible. Owing to clinical heterogeneity, results were synthesized descriptively. RESULTS: The searches yielded 42 records (PubMed/MEDLINE, n = 33; citation searching, n = 9). After removal of eight duplicate records, 34 unique records were screened; 25 were excluded by title and abstract. Nine full-text reports were assessed and all met the eligibility criteria. These publications described at least 12 distinct recipients with ATP6AP1-CDG (n = 5), PMM2-CDG (n = 2), CCDC115-CDG (n = 2), MPI-CDG (n = 1), COG6-CDG (n = 1), or ATP6AP2-CDG (n = 1). Age at first LTx ranged from 7 months to 28 years. Ten of 12 recipients (83.3%) were alive with a functioning graft at the latest reported assessment, although formal actuarial patient and graft survival could not be calculated. Successful LTx generally corrected hepatic synthetic dysfunction and liver-derived glycoprotein abnormalities, but immune, neurological, and pancreatic manifestations persisted. CONCLUSIONS: LTx can rescue severe hepatic disease and provide liver-specific metabolic correction in selected CDG, but it should not be considered a systemic cure. Candidate selection and immunosuppression require multidisciplinary, genotype-informed assessment. Prospective standardized reporting is needed.