Application of Mutation Analysis for the Previously Uncertain Cases of Adult-Onset Type II Citrullinemia(CTLN2) and Their Clinical Profiles.
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- TANAKA TOJU
- Department of Pediatrics, National Nishi-Sapporo Hospital Department of Pediatrics, Sapporo Medical University
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- NAGAO MASAYOSHI
- Department of Pediatrics, National Nishi-Sapporo Hospital Department of Pediatrics, Sapporo Medical University
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- TSUTSUMI HIROYUKI
- Department of Pediatrics, Sapporo Medical University
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抄録
Type II citrullinemia (CTLN2) is characterized by a deficiency of argininosuccinate synthetase (ASS) in the liver. Mutation analysis of the SLC25A13 gene, which is responsible for CTLN2, provides a rapid and accurate diagnosis. We describe clinical, biochemical and histologic features of two patients, whose diagnosis was finally made by mutation analysis. They initially presented with symptoms related to hyperammonemia at 16 to 22 years of age. A patient had shown mental retardation and growth failure from early childhood. Laboratory findings including amino acids, were characteristic, such as elevated citrulline, arginine, and lysine concentrations, but definitive diagnosis had not been made. The patients died of liver cirrhosis and hepatoma at 31 and 34 years old, respectively. Fatty change in the hepatocytes was commonly observed in the autopsied specimens. ASS activity was decreased in the liver of both patients, and a concomitant decrease of arginase activity was found in one case. Investigation for the SLC25A13 mutation revealed that one patient was homozygous for IVS11+1G>A, and the other was compound heterozygote (851del4/S225X). Comparison of genetic, enzymatic and biochemical data among various cases of CTLN2 will be essential to understand the real nature of the disease.
収録刊行物
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- The Tohoku Journal of Experimental Medicine
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The Tohoku Journal of Experimental Medicine 198 (2), 89-97, 2002
東北ジャーナル刊行会
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詳細情報 詳細情報について
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- CRID
- 1390001204241725312
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- NII論文ID
- 130004459209
- 50000726763
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- NII書誌ID
- AA00863920
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- COI
- 1:CAS:528:DC%2BD3sXlsFyltw%3D%3D
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- ISSN
- 13493329
- 00408727
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- PubMed
- 12512993
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- Crossref
- PubMed
- CiNii Articles
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- 抄録ライセンスフラグ
- 使用不可