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Updated: Jun 9, 2026
10:06
Cell Type-specific Gene Expression Profiling in the Mouse Liver
Published on: September 17, 2019
Recurrent liver failure in a 25-year-old female.
Jefrey Salek1, Janice Byrne, Terry Box
1Department of Medicine, University of Utah, Salt Lake City, UT 84132, USA.
Summary
A rare urea cycle defect, citrullinemia type I, caused acute liver failure (ALF) in an adult. Early metabolic screening is crucial for diagnosing idiopathic ALF and preventing liver transplant.
Area of Science:
- Hepatology
- Metabolic Disorders
- Genetics
Background:
- Acute liver failure (ALF) is a severe condition with diverse etiologies, often indeterminate in adults.
- Acetaminophen toxicity accounts for nearly half of adult ALF cases, highlighting the need for etiological investigation.
Observation:
- A patient presented with recurrent ALF, initially misdiagnosed as Wilson disease due to low ceruloplasmin.
- Clinical presentation included elevated aminotransferases, jaundice, coagulopathy, and encephalopathy, mimicking idiopathic ALF.
Findings:
- Citrullinemia type I, a urea cycle defect, was diagnosed via plasma amino acid analysis and molecular testing.
- This diagnosis was unexpected as urea cycle defects are rarely causes of ALF in adults.
Implications:
- This case underscores the importance of screening for metabolic disorders in adult patients with idiopathic ALF.
- Timely diagnosis and treatment of citrullinemia type I led to full recovery without liver transplantation.
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