Muscle phosphorylase b kinase deficiency revisited

• DOI: 10.1016/j.nmd.2009.11.004
• Publication Date: 2010-01-19T10:48:27Z
• Authors: Andoni Echaniz-La...; Hasan O. Akman; Michel Mohr; Christine Tranchant; Violaine Talmant-...; Marie-Odile Rolland; Salvatore Dimauro
• Keywords: Phosphorylase kinase

Muscle phosphorylase b kinase (PHK) deficiency (glycogenosis type VIII) is a rare disorder caused by mutations in the PHKA1 gene encoding the alpha(M) subunit of PHK. Only 5 patients with molecular defects in the X-linked PHKA1 gene have been described until now, and they all presented with exercise intolerance. Here, we report a patient with a new mutation in the PHKA1 gene who presented with PHK deficiency, cognitive impairment, but no overt myopathy. This report supports the concept that PHK deficiency is a mild metabolic myopathy and suggests that PHK mutations may interfere with normal brain function.