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Review Case Reports
A Case of a Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review.
- Kousuke Baba, Tokiko Fukuda, Mitsuru Furuta, Satoru Tada, Atsuko Imai, Yoshihiro Asano, Hideo Sugie, Masanori P Takahashi, and Hideki Mochizuki.
- Department of Neurology, Osaka University Graduate School of Medicine, Japan.
- Intern. Med. 2022 Dec 1; 61 (23): 358935943589-3594.
AbstractPhosphoglycerate 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.
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