Article
A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review.
Internal medicine (Tokyo, Japan) - 1 Dec 2022
Baba Kousuke, Fukuda Tokiko, Furuta Mitsuru, Tada Satoru, Imai Atsuko, Asano Yoshihiro, Sugie Hideo, P Takahashi Masanori, Mochizuki Hideki
Abstract excerpt
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...
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