Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency

Asami Munekane; Yutaka Ohsawa; Tokiko Fukuda; Hirotake Nishimura; Shin-ichiro Nishimatsu; Hideo Sugie; Yoshihiko Saito; Ichizo Nishino; Yoshihide Sunada

doi:10.2169/internalmedicine.8137-21

This article has now been updated. Please use the final version.

Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency

Asami Munekane, Yutaka Ohsawa, Tokiko Fukuda, Hirotake Nishimura, Shin-ichiro Nishimatsu, Hideo Sugie, Yoshihiko Saito, Ichizo Nishino, Yoshihide Sunada

Author information

Keywords: muscle phosphorylase b kinase (PHK), αM subunit of the PHK gene (PHKA1), glycogen storage disease type IXd, maximal multistage 20-m shuttle run test

JOURNAL OPEN ACCESS Advance online publication

Article ID: 8137-21

DOI https://doi.org/10.2169/internalmedicine.8137-21

The final version of this article is now available: Vol. 61 (2022), No. 8 pp. 1241-1245

Details

Abstract

Muscle phosphorylase b kinase (PHK) deficiency is a rare mild metabolic disorder caused by mutations of the PHKA1 gene encoding the αM subunit of PHK. A 16-year-old boy experienced myalgia during the maximal multistage 20-m shuttle run test targeting the maximal oxygen consumption. Although an ischemic forearm exercise test was normal, a muscle biopsy revealed subsarcolemmal glycogen accumulation. He harbored a novel insertion mutation in the PHKA1 gene that resulted in premature termination of the αM subunit close to the C-terminus. Compared with previously reported cases, his reduction in PHK activity was relatively mild.

Corresponding author

Register with J-STAGE for free!