ReviewJournal of inherited metabolic disease2025
Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.
Review in Journal of inherited metabolic disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Phenotype and Long-Term Outcome in Recurrent Paediatric Acute Liver Failure: Systematic Review and Individual Participant Data Analysis.Liver international : official journal of the International Association for the Study of the Liver · 2025Pooled it
- Recurrent acute liver failure in infancy - a novelWorld journal of clinical pediatrics · 2026Article
- Pathomechanism of Fever-Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC-Observations In Vitro and In Vivo.Liver international : official journal of the International Association for the Study of the Liver · 2026Article
- Toward a Genomics-Driven Hepatology: Liver Biology, Precision Diagnosis, and the Rise in Genetic Therapies.Pharmaceutics · 2026Review
- Functional analysis of novel and recurrent RINT1 variants in patients with infantile liver dysfunction.Journal of human genetics · 2026Article
- A novel compound heterozygous NBAS variant with HLH and multisystem involvement: expanding the clinical spectrum and literature review.Frontiers in immunology · 2026Review
- A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs.JIMD reports · 2026Article
- Article
- SCYL1 deficiency in CALFAN syndrome is associated with ER stress and cell death.Disease models & mechanisms · 2025Article
- The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives.Journal of inherited metabolic disease · 2025Review
- Recurrent acute liver failure and neutropenia caused by a novel homozygous RINT1 variant: a brief report of phenotypic expansion and population-specific findings.Human genomics · 2025Article
- Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in Germany.Journal of pediatric gastroenterology and nutrition · 2025Article
- Cytokine-Induced Cytotoxicity and Extracellular Matrix Abnormalities in Hepatocytes Derived From RAD50-Interacting Protein 1-Deficient Induced Pluripotent Stem Cells.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.Liver international : official journal of the International Association for the Study of the Liver · 2025Observational
- RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.Molecular genetics and metabolism · 2025Article
- Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.Journal of inherited metabolic disease · 2025Review
- Biological Basis of Cell Trafficking: A General Overview.Journal of inherited metabolic disease · 2025Review
- Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders.Journal of inherited metabolic disease · 2025Article
- Case Report: Hemophagocytic lymphohistiocytosis associated with NBAS gene variant and Epstein-Barr virus (EBV) infection.Frontiers in pediatrics · 2025Article
- Recurrent fever-associated acute liver failure and cranial dysmorphism in children caused by RINT1 gene mutations: a rare case report.Frontiers in pediatrics · 2025Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
Among genetic disorders of vesicular trafficking, there are three causing recurrent acute liver failure (RALF): NBAS, RINT1, and SCYL1-associated disease. These three disorders are characterized by liver crises triggered by febrile infections and account for a relevant proportion of RALF causes. While the frequency and severity of liver crises in NBAS and RINT1-associated disease decrease with age, patients with SCYL1 variants present with a progressive, cholestatic course. In all three diseases, there is a multisystemic, partially overlapping phenotype with variable expression, including liver, skeletal, and nervous systems, all organ systems with high secretory activity. There are no specific biomarkers for these diseases, and whole exome sequencing should be performed in patients with RALF of unknown etiology. NBAS, SCYL1, and RINT1 are involved in antegrade and retrograde vesicular trafficking. Pathomechanisms remain unclarified, but there is evidence of a decrease in concentration and stability of the protein primarily affected by the respective gene defect and its interaction partners, potentially causing impairment of vesicular transport. The impairment of protein secretion by compromised antegrade transport provides a possible explanation for different organ manifestations such as bone alteration due to lack of collagens or diabetes mellitus when insulin secretion is affected. Dysfunction of retrograde transport impairs membrane recycling and autophagy. The impairment of vesicular trafficking results in increased endoplasmic reticulum stress, which, in hepatocytes, can progress to hepatocytolysis. While there is no curative therapy, an early and consequent implementation of an emergency protocol seems crucial for optimal therapeutic management.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.