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

A 36-year-old man experienced severely impaired consciousness twice after drinking because of hyperammonemia. No abnormal blood tests were found other than ammonia levels. However, magnetic resonance imaging (MRI) showed atrophy of the brain parenchyma. One the second occasion, the patient suffered...

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Autores principales: Ishikawa, Ruoyi, Sugimoto, Takamichi, Abe, Takafumi, Ohno, Narumi, Tazuma, Taku, Giga, Mayumi, Naito, Hiroyuki, Kono, Tomoyuki, Nomura, Eiichi, Hara, Keiichi, Yorifuji, Tohru, Yamawaki, Takemori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9152872/
https://www.ncbi.nlm.nih.gov/pubmed/34670888
http://dx.doi.org/10.2169/internalmedicine.7961-21
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author Ishikawa, Ruoyi
Sugimoto, Takamichi
Abe, Takafumi
Ohno, Narumi
Tazuma, Taku
Giga, Mayumi
Naito, Hiroyuki
Kono, Tomoyuki
Nomura, Eiichi
Hara, Keiichi
Yorifuji, Tohru
Yamawaki, Takemori
author_facet Ishikawa, Ruoyi
Sugimoto, Takamichi
Abe, Takafumi
Ohno, Narumi
Tazuma, Taku
Giga, Mayumi
Naito, Hiroyuki
Kono, Tomoyuki
Nomura, Eiichi
Hara, Keiichi
Yorifuji, Tohru
Yamawaki, Takemori
author_sort Ishikawa, Ruoyi
collection PubMed
description A 36-year-old man experienced severely impaired consciousness twice after drinking because of hyperammonemia. No abnormal blood tests were found other than ammonia levels. However, magnetic resonance imaging (MRI) showed atrophy of the brain parenchyma. One the second occasion, the patient suffered severe impairment of consciousness, and because of seizures and glossoptosis, mechanical ventilation was started. Urea cycle disorders (UCDs) were assumed to be involved. Genetic testing revealed a monoallelic mutation of the carbamoyl phosphate synthase 1 (CPS1) gene. When transient hyperammonemia of unknown cause occurs repeatedly in adults, an active investigation for UCDs should be conducted.
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spelling pubmed-91528722022-06-13 A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation Ishikawa, Ruoyi Sugimoto, Takamichi Abe, Takafumi Ohno, Narumi Tazuma, Taku Giga, Mayumi Naito, Hiroyuki Kono, Tomoyuki Nomura, Eiichi Hara, Keiichi Yorifuji, Tohru Yamawaki, Takemori Intern Med Case Report A 36-year-old man experienced severely impaired consciousness twice after drinking because of hyperammonemia. No abnormal blood tests were found other than ammonia levels. However, magnetic resonance imaging (MRI) showed atrophy of the brain parenchyma. One the second occasion, the patient suffered severe impairment of consciousness, and because of seizures and glossoptosis, mechanical ventilation was started. Urea cycle disorders (UCDs) were assumed to be involved. Genetic testing revealed a monoallelic mutation of the carbamoyl phosphate synthase 1 (CPS1) gene. When transient hyperammonemia of unknown cause occurs repeatedly in adults, an active investigation for UCDs should be conducted. The Japanese Society of Internal Medicine 2021-10-19 2022-05-01 /pmc/articles/PMC9152872/ /pubmed/34670888 http://dx.doi.org/10.2169/internalmedicine.7961-21 Text en Copyright © 2022 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Ishikawa, Ruoyi
Sugimoto, Takamichi
Abe, Takafumi
Ohno, Narumi
Tazuma, Taku
Giga, Mayumi
Naito, Hiroyuki
Kono, Tomoyuki
Nomura, Eiichi
Hara, Keiichi
Yorifuji, Tohru
Yamawaki, Takemori
A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation
title A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation
title_full A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation
title_fullStr A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation
title_full_unstemmed A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation
title_short A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation
title_sort 36-year-old man with repeated short-term transient hyperammonemia and impaired consciousness with a confirmed carbamoyl phosphate synthase 1 gene monoallelic mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9152872/
https://www.ncbi.nlm.nih.gov/pubmed/34670888
http://dx.doi.org/10.2169/internalmedicine.7961-21
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