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Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.
J. Inherit. Metab. Dis., DOI: 10.1002/jimd.12707 (2024)
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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Publication type
Article: Journal article
Document type
Review
Keywords
Calfan ; Ilfs2 ; Ilfs3 ; Nbas ; Rint1 ; Scyl1 ; Disorders Of Vesicular Trafficking ; Pediatric Acute Liver Failure ; Recurrent Acute Liver Failure; Endoplasmic-reticulum; Growth-retardation; Iars Mutations; Syntaxin 18; Golgi; Gene; Retrograde; Disease; Onset; Identification
Language
english
Publication Year
2024
HGF-reported in Year
2024
ISSN (print) / ISBN
0141-8955
e-ISSN
1573-2665
Publisher
Springer
Publishing Place
111 River St, Hoboken 07030-5774, Nj Usa
Reviewing status
Peer reviewed
Institute(s)
Institute of Neurogenomics (ING)
POF-Topic(s)
30205 - Bioengineering and Digital Health
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-503292-001
Grants
Bundesministerium fr Bildung und Forschung
WOS ID
001151792500001
Scopus ID
85183620788
PubMed ID
38279772
Erfassungsdatum
2024-04-17