Related Experiment Video
Updated: Nov 26, 2025

Generation of a Rat Model of Acute Liver Failure by Combining 70% Partial Hepatectomy and Acetaminophen
Published on: November 27, 2019
Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency
Lara M Marten1, Florian Brinkert1, Desirée E C Smith2
1Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.
Abstract:
AARS1 deficiency belongs to the group of disorders affecting aminoacyl-tRNA synthetases. To date, AARS1 deficiency has only been linked to neurologic disorders. We report a 6-year-old girl with microcephaly and developmental delay who presented with repeated episodes of acute liver failure. Whole-exome sequencing revealed compound heterozygosity for two missense variants within the AARS1 gene, p.[Leu298Gln];[Arg751Gly]), whose functional relevance was demonstrated by decreased enzymatic activity in fibroblasts. This is the first report that shows that AARS1 variants may be associated with recurrent acute liver failure.
Related Concept Videos
Acute Kidney Injury II: Pathophysiology
Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test
Acute Kidney Injury I: Introduction
Acute Pancreatitis I: Introduction
Acute pancreatitis is characterized by rapid inflammation of the pancreas, often caused by factors like gallstone blockage or excessive alcohol consumption. Chronic pancreatitis, on the other hand, is a slow, progressive inflammation that may result from long-term alcohol abuse, obstructions in the pancreatic duct, or genetic factors.
The causes of acute pancreatitis include:
Inborn Errors of Metabolism
Acute Kidney Injury III: Clinical Manifestations

