Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle

被引：77

作者：

Saheki, T ^{[1
]}

Kobayashi, K

Iijima, M

Horiuchi, M

Begum, L

Jalil, MA

Li, MX

Lu, YB

Ushikai, M

Tabata, A

Moriyama, M

Hsiao, KJ

Yang, Y

机构：

[1] Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Mol Metab & Biochem Genet, Lab Neuroanat, Kagoshima, Japan

[2] Osaka Prefecture Univ, Lab Integrat Physiol Vet Sci, Sakai, Osaka 591, Japan

[3] Natl Yang Ming Univ, Inst Genet, Taipei 112, Taiwan

[4] Taipei Vet Gen Hosp, Taipei 112, Taiwan

[5] Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China

来源：

MOLECULAR GENETICS AND METABOLISM | 2004年 / 81卷

关键词：

adult-onset type II citrullinemia; argininosuccinate synthetase; aspartate glutamate carrier; citrin; citrullinemia; hyperammonemia; intrahepatic cholestasis caused by citrin deficiency malate-aspartate shuttle; SLC25A13; urea synthesis;

D O I：

10.1016/j.ymgme.2004.01.006

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Citrin is a mitochondrial aspartate glutamate carrier primarily expressed in the liver, heart, and kidney. We found that adult-onset type II citrullinemia is caused by mutations in the SLC25A13 gene that encodes for citrin. In this report, we describe the frequency of SLC25A13 mutations, the roles of citrin as a member of the urea cycle and as a member of the malate-aspartate shuttle, the relationship between its functions and symptoms of citrin deficiency, and therapeutic issues. (C) 2004 Elsevier Inc. All rights reserved.

引用

页码：S20 / S26

页数：7

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