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A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review
Phosphoglycerate kinase (PGK) deficiency is an X-linked disorder characterized by a combination of hemolytic anemia, myopathy, and brain involvement. We herein report a Japanese man who had several episodes of rhabdomyolysis but was training strenuously to be a professional boxer. Mild hemolytic ane...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society of Internal Medicine
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9790788/ https://www.ncbi.nlm.nih.gov/pubmed/35527021 http://dx.doi.org/10.2169/internalmedicine.9221-21 |
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author | Baba, Kousuke Fukuda, Tokiko Furuta, Mitsuru Tada, Satoru Imai, Atsuko Asano, Yoshihiro Sugie, Hideo P. Takahashi, Masanori Mochizuki, Hideki |
author_facet | Baba, Kousuke Fukuda, Tokiko Furuta, Mitsuru Tada, Satoru Imai, Atsuko Asano, Yoshihiro Sugie, Hideo P. Takahashi, Masanori Mochizuki, Hideki |
author_sort | Baba, Kousuke |
collection | PubMed |
description | Phosphoglycerate kinase (PGK) deficiency is an X-linked disorder characterized by a combination of hemolytic anemia, myopathy, and brain involvement. We herein report a Japanese man who had several episodes of rhabdomyolysis but was training strenuously to be a professional boxer. Mild hemolytic anemia was noted. The enzymatic activity of PGK was significantly reduced, and a novel missense mutation, p.S62N, was identified in the PGK1 gene. A literature review revealed only one case with a mixed hemolytic and myopathic phenotype like ours. This mild phenotype indicates the complex pathophysiology of PGK deficiency and suggests the benefits of dietary control and exercise. |
format | Online Article Text |
id | pubmed-9790788 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | The Japanese Society of Internal Medicine |
record_format | MEDLINE/PubMed |
spelling | pubmed-97907882023-01-05 A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review Baba, Kousuke Fukuda, Tokiko Furuta, Mitsuru Tada, Satoru Imai, Atsuko Asano, Yoshihiro Sugie, Hideo P. Takahashi, Masanori Mochizuki, Hideki Intern Med Case Report Phosphoglycerate kinase (PGK) deficiency is an X-linked disorder characterized by a combination of hemolytic anemia, myopathy, and brain involvement. We herein report a Japanese man who had several episodes of rhabdomyolysis but was training strenuously to be a professional boxer. Mild hemolytic anemia was noted. The enzymatic activity of PGK was significantly reduced, and a novel missense mutation, p.S62N, was identified in the PGK1 gene. A literature review revealed only one case with a mixed hemolytic and myopathic phenotype like ours. This mild phenotype indicates the complex pathophysiology of PGK deficiency and suggests the benefits of dietary control and exercise. The Japanese Society of Internal Medicine 2022-05-07 2022-12-01 /pmc/articles/PMC9790788/ /pubmed/35527021 http://dx.doi.org/10.2169/internalmedicine.9221-21 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 Baba, Kousuke Fukuda, Tokiko Furuta, Mitsuru Tada, Satoru Imai, Atsuko Asano, Yoshihiro Sugie, Hideo P. Takahashi, Masanori Mochizuki, Hideki A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review |
title | A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review |
title_full | A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review |
title_fullStr | A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review |
title_full_unstemmed | A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review |
title_short | A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review |
title_sort | mild clinical phenotype with myopathic and hemolytic forms of phosphoglycerate kinase deficiency (pgk osaka): a case report and literature review |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9790788/ https://www.ncbi.nlm.nih.gov/pubmed/35527021 http://dx.doi.org/10.2169/internalmedicine.9221-21 |
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