Patients with this type of glycogen storage disease have a deficiency of the phosphorylase kinase enzyme. The phosphorylase kinase enzyme is a regulatory enzyme in the breakdown of glycogen, thus the deficiency of this enzyme results in glycogen accumulation.
Phosphorylase Kinase Deficiency
The clinical picture of Type IX glycogen storage disease is similar to that seen in Type VI GSD, liver phosphorlyase deficiency. The most common symptoms are enlarged liver, growth retardation, mild delay in motor development, and elevated blood lipids. All of the symptoms usually improve as the child ages, and most adults are of normal height.
Phosphorylase kinase is a complex enzyme. Several subtypes of phophorylase kinase deficiency have been identified, based on which tissues the enzyme deficiency occurs, and the type of inheritance. The inheritance of Type IX glycogen storage disease can be autosomal recessive, or X-linked recessive. The most common form of Type IX GSD is the X-linked form, which accounts for nearly 75% of all cases.
Definitive diagnosis of Type IX GSD requires a liver biopsy.
Dr. Rajneesh Kumar Sharma
Homoeo Cure & Research Centre P. Ltd.
NH 74, Moradabad Road, Kashipur (Uttaranchal) 244713 India
Ph- 05947- 275535, 260327, 274338, 277418
Fax- 274338, 275535; Cells- 98 976 18594, 98 976 21896