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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, 3-1-1 Asahi, Matsumoto 390-8621, Japan.
No to Shinkei = Brain and Nerve
|January 19, 2007
Summary
Adult-onset citrullinemia (CTLN2) is a rare urea cycle disorder caused by citrin gene deficiency. Liver transplantation offers a successful treatment for patients with this condition.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Adult-onset citrullinemia (CTLN2) is a rare hereditary metabolic disorder.
- It is characterized by elevated plasma citrulline and ammonia due to argininosuccinate synthetase (ASS) deficiency.
- Neurological symptoms resemble hepatic encephalopathy, often leading to severe brain edema and rapid deterioration.
Purpose of the Study:
- To review the understanding of adult-onset citrullinemia (CTLN2).
- To highlight the role of the citrin gene and its association with ASS deficiency.
- To discuss treatment outcomes, particularly liver transplantation.
Main Methods:
- Literature review of adult-onset citrullinemia (CTLN2) cases.
- Analysis of genetic and biochemical findings related to citrin deficiency.
- Evaluation of treatment strategies, focusing on liver transplantation outcomes.
Main Results:
- The causative gene for CTLN2 is identified as the "citrin gene", potentially involved in mitochondrial aspartate/glutamate transport.
- Living-related liver transplantation has shown good outcomes in over 30 reported cases since 1995.
- Citrin deficiency can present with diverse phenotypes, including neonatal cholestasis and hepatocellular carcinoma, preceding CTLN2.
Conclusions:
- Liver transplantation is an effective treatment for adult-onset citrullinemia (CTLN2).
- The precise pathogenesis linking citrin gene mutations to hepatic ASS deficiency remains to be elucidated.
- Further research is needed to understand the complex relationship between citrin gene function and urea cycle enzyme activity.
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