A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed <i>Carbamoyl Phosphate Synthase 1</i> Gene Monoallelic Mutation-Reference-Cited by-同舟云学术

A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation

Published:2022 Issue: Volume: Page:
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Ishikawa Ruoyi¹,Sugimoto Takamichi¹,Abe Takafumi¹,Ohno Narumi¹,Tazuma Taku¹,Giga Mayumi¹,Naito Hiroyuki¹,Kono Tomoyuki¹,Nomura Eiichi¹,Hara Keiichi²,Yorifuji Tohru³,Yamawaki Takemori¹

Affiliation:

1. Department of Neurology, Hiroshima City Hiroshima Citizens Hospital, Japan

2. Department of Pediatrics and Institute for Clinical Research, NHO Kure Medical Center, Japan

3. Division of Pediatric Endocrinology and Metabolism, Osaka City General Hospital, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7961-21/_pdf

Reference36 articles.

1. 1. Batshaw ML, Tuchman M, Summar M, et al. A longitudinal study of urea cycle disorders. Mol Genet Metab 113: 127-130, 2014.

2. 2. Crosbie DC, Sugumar H, Simpson MA, Walker SP, Dewey HM, Reade MC. Late-onset ornithine transcarbamylase defciency: a potentially fatal yet treatable cause of coma. Critical Care and Resuscitation 11: 222-227, 2009.

3. 3. Nagata N, Matsuda I, Oyanagi K. Estimated frequency of urea cycle enzymopathies in Japan. Am J Med Genet 39: 228-229, 1991.

4. 4. Bencke J, Damsgaard R, Saekmose A, et al. Anaerobic power and muscle strength characteristics of 11 years old elite and non-elite boys and girls from gymnastics, team handball, tennis and swimming. Scand J Med Sci Sports 12: 171-178, 2002.

5. 5. Diez-Fernandez C, Häberle J. Targeting CPS1 in the treatment of Carbamoylphosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder. Expert Opinion on Therapeutic Targets 21: 391-399, 2017.

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1. Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review;BMC Medical Genomics;2023-06-26