M.P.4.08 Are oxidative capacity and glycolysis affected in X-linked phosphorylase b kinase deficiency?

Abstract

It is unclear to what extent muscle phosphorylase b kinase (PHK) deficiency is associated with exercise-related symptoms and impaired muscle metabolism, because (1) only four patients have been characterized at the molecular level, (2) reported symptoms have been nonspecific, and (3) lactate responses to ischemic handgrip exercise have been normal. We studied a 50-year-old man with X-linked PHK deficiency using ischemic forearm and cycle ergometry exercise tests to define the derangement of muscle metabolism.