Successful treatment of adult-onset type II citrullinemia with a low-carbohydrate diet and l-arginine after DNA analysis produced a definitive diagnosis-Reference-Cited by-同舟云学术

Successful treatment of adult-onset type II citrullinemia with a low-carbohydrate diet and l-arginine after DNA analysis produced a definitive diagnosis

Published:2020-01-02 Issue:5 Volume:13 Page:823-833
ISSN:1865-7257
Container-title:Clinical Journal of Gastroenterology
language:en
Short-container-title:Clin J Gastroenterol

Author:

Unita Satoshi,Hirashima Noboru,Shimada Masaaki,Tsunekawa Takuya,Tanaka Daiki,Kondo Takashi,Urata Noboru,Kondo Hisashi,Saito Masashi,Iwase Hiroaki,Ito Shogo,Togawa Takao,Saitoh Shinji,Tanaka Yasuhito

Publisher

Springer Science and Business Media LLC

Subject

Gastroenterology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12328-019-01083-6.pdf

Reference43 articles.

1. Kobayashi K, Sinasac DS, Iijima M, et al. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat genet. 1999;22:159–63.

2. Saheki T, Kobayashi K. Mitchondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J Hum Genet. 2002;47:333–41.

3. Ikeda S, Yazaki M, Takai Y, et al. Type II (adult onset) citrullinaemia: clinical picture and the therapeutic effect of liver transplantation. Neurol Neurosurg Psychiatry. 2001;71:663–70.

4. Kimura N, Kubo N, Narumi S, et al. Liver transplantation versus conservative treatment for adult-onset type II citrullinemia: our experience and a review of the literature. Transplant Proc. 2013;45:3432–7.

5. Imamura Y, Kobayashi K, Shibatou T, et al. Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease. Hepat Res. 2003;26:68–72.

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