Glycogen Storage Disease Type 9 Overview
Learn About Glycogen Storage Disease Type 9
Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to break down a complex sugar called glycogen. The different forms of the condition can affect glycogen breakdown in liver cells or muscle cells or sometimes both. A lack of glycogen breakdown interferes with the normal function of the affected tissue.
Mutations in the PHKA1, PHKA2, PHKB, or PHKG2 genes are known to cause GSD IX. These genes provide instructions for making pieces (subunits) of an enzyme called phosphorylase b kinase. The enzyme is made up of 16 subunits, four each of the alpha, beta, gamma, and delta subunits. At least two different versions of phosphorylase b kinase are formed from the subunits: one is most abundant in liver cells and the other in muscle cells.
GSD IX that affects the liver is estimated to occur in 1 in 100,000 people. The forms of the disease that affect muscles or both muscles and liver are much less common, although the prevalence is unknown.
GSD IX can have different inheritance patterns depending on the genetic cause of the condition.
Regents Of The University Of Claifornia Univ Neursciences
Changrui Xiao is a Medical Genetics specialist and a Neurologist in Orange, California. Dr. Xiao and is rated as an Experienced provider by MediFind in the treatment of Glycogen Storage Disease Type 9. His top areas of expertise are Retinopathy Pigmentary Mental Retardation, Phosphoglycerate Mutase Deficiency, Glycogen Storage Disease Type 7, and Glycogen Storage Disease Type 0.
Hoag Clinic
Tse-ling Fong is a Hepatologist in Newport Beach, California. Dr. Fong and is rated as an Experienced provider by MediFind in the treatment of Glycogen Storage Disease Type 9. His top areas of expertise are Hepatitis, Hepatitis B, Jaundice, Visceromegaly, and Liver Transplant.
The Regents Of The University Of California
Brent Fogel is a Neurologist in Los Angeles, California. Dr. Fogel and is rated as an Advanced provider by MediFind in the treatment of Glycogen Storage Disease Type 9. His top areas of expertise are Acute Cerebellar Ataxia, Drug Induced Dyskinesia, Spinocerebellar Ataxia, and Olivopontocerebellar Atrophy.
Summary: Collection and review of clinical information related to Glycogen Storage Disease Type VI (GSD VI) OR Glycogen Storage Disease Type IX (GSD IX) generated during clinic visits.
Published Date: August 01, 2015
Published By: National Institutes of Health