X-kromoszómához kötött recesszív
Caused by changes in PHKA1, which encodes the muscle-specific part of phosphorylase kinase, an enzyme that releases glycogen for energy during exercise. Males are mainly affected.
Tünetek és jelek
Exercise intolerance, muscle cramps and pain during exercise are the main features. They can start at any time from childhood to adulthood. Some people have no symptoms. Muscle weakness that worsens over time is also reported, and muscle breakdown can cause dark urine.
Mit változtat a diagnózis
Vigorous exercise should be avoided, physical therapy is used, and blood glucose is optimised with dietary advice. Episodes of dark urine need prompt medical assessment. Mothers of affected males may be carriers, so genetic counselling and carrier testing of relatives are available.
Vizsgált gének
Más néven
glycogen storage disease caused by mutation in PHKA1; glycogen storage disease due to muscle phosphorylase kinase deficiency; glycogen storage disease type 9D; glycogen storage disease type IXd; glycogenosis due to muscle phosphorylase kinase deficiency; glycogenosis type 9D; glycogenosis type IXd; GSD due to muscle phosphorylase kinase deficiency; GSD IXd; GSD type 9D; GSD type IXd; GSD Vb; GSD9D; muscle glycogenosis, X-linked recessive; muscle phosphorylase kinase deficiency; muscular phosphorylase kinase deficiency; PHKA1 glycogen storage disease; PHKA1-related glycogen storage disease type IX
