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Updated: Jul 16, 2026
09:02
Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Published on: November 26, 2018
[Adult-onset citrullinemia]
1Department of Internal Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.
Brain and Nerve = Shinkei Kenkyu No Shinpo
|March 16, 2007
Summary
Adult-onset citrullinemia (CTLN2) is a rare urea cycle disorder caused by citrin deficiency. Liver transplantation offers a successful treatment option for patients with this condition.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Adult-onset citrullinemia (CTLN2) is a rare genetic metabolic disorder.
- It is characterized by elevated plasma citrulline and ammonia due to argininosuccinate synthetase (ASS) deficiency.
- Neurological symptoms resemble hepatic encephalopathy, historically leading to poor outcomes.
Purpose of the Study:
- To summarize the understanding of adult-onset citrullinemia (CTLN2).
- To highlight the role of liver transplantation in managing CTLN2.
- To discuss the genetic basis and varied phenotypes associated with citrin deficiency.
Main Methods:
- Review of clinical cases and outcomes.
- Genetic analysis identifying the citrin gene.
- Discussion of treatment modalities, including liver transplantation.
Main Results:
- Living-related liver transplantation has shown good outcomes for over 30 patients since 1995.
- The causative gene is identified as 'citrin', potentially involved in mitochondrial transport.
- Citrin deficiency presents with diverse phenotypes, including neonatal cholestasis and hepatocellular carcinoma.
Conclusions:
- Liver transplantation is an effective treatment for adult-onset citrullinemia (CTLN2).
- The precise link between citrin gene mutations and ASS deficiency requires further investigation.
- Understanding the varied phenotypes is crucial for managing citrin deficiency disorders.
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