ArticleJournal of inherited metabolic disease2016
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.
Article in Journal of inherited metabolic disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 109 citations in OpenAlex.
- 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
- Fever-Triggered Recurrent Acute Liver Failure Due to NBAS Mutation in a Child.Indian journal of pediatrics · 2026Article
- The incidence, frequency of late liver-related complications, and transplant likelihood in pediatric acute liver failure in Californian children.Hepatology communications · 2026Article
- A novel compound heterozygous NBAS variant with HLH and multisystem involvement: expanding the clinical spectrum and literature review.Frontiers in immunology · 2026Review
- 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
- [Clinical features and genetic study of four cases of pediatric acute liver failure caused byZhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2025Article
- Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.Journal of inherited metabolic disease · 2025Review
- Recurrent fever-associated acute liver failure and cranial dysmorphism in children caused by RINT1 gene mutations: a rare case report.Frontiers in pediatrics · 2025Article
- A novel splicing variant inFrontiers in genetics · 2025Article
- Case Report: Living donor liver transplantation for the treatment of recurrent pediatric acute liver failure with neuroblastoma amplified sequence gene mutation: a literature review.Frontiers in pediatrics · 2025Article
- Fever Triggered Recurrent Acute Liver Failure due to RINT1 Deficiency.Indian journal of pediatrics · 2024Article
- RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.The Journal of clinical investigation · 2023Article
- Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants inJIMD reports · 2023Article
- A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene.Human genome variation · 2023Article
- Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.JIMD reports · 2022Article
- Case report: A novel cause of acute liver failure in children: A combination of human herpesvirus-6 infection and homozygous mutation in NBAS gene.Journal of clinical laboratory analysis · 2022Article
- A mysterious cause of recurrent acute liver dysfunction for over a decade.Gastroenterology report · 2022Article
- Resolution of recurrent pediatric acute liver failure with liver transplantation in a patient with NBAS mutation.Pediatric transplantation · 2021Article
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Authors and funding
32 authors at 15 institutions in 6 countries.
Funding
Abstract
backgroundAcute liver failure (ALF) in infancy and childhood is a life-threatening emergency and in about 50% the etiology remains unknown. Recently biallelic mutations in NBAS were identified as a new molecular cause of ALF with onset in infancy, leading to recurrent acute liver failure (RALF).
methodsThe phenotype and medical history of 14 individuals with NBAS deficiency was studied in detail and functional studies were performed on patients' fibroblasts.
resultsThe phenotypic spectrum of NBAS deficiency ranges from isolated RALF to a multisystemic disease with short stature, skeletal dysplasia, immunological abnormalities, optic atrophy, and normal motor and cognitive development resembling SOPH syndrome. Liver crises are triggered by febrile infections; they become less frequent with age but are not restricted to childhood. Complete recovery is typical, but ALF crises can be fatal. Antipyretic therapy and induction of anabolism including glucose and parenteral lipids effectively ameliorates the course of liver crises. Patients' fibroblasts showed an increased sensitivity to high temperature at protein and functional level and a disturbed tethering of vesicles, pointing at a defect of intracellular transport between the endoplasmic reticulum and Golgi.
conclusionsMutations in NBAS cause a complex disease with a wide clinical spectrum ranging from isolated RALF to a multisystemic phenotype. Thermal susceptibility of the syntaxin 18 complex is the basis of fever dependency of ALF episodes. NBAS deficiency is the first disease related to a primary defect of retrograde transport. Identification of NBAS deficiency allows optimized therapy of liver crises and even prevention of further episodes.
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