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.
Duke Health Integrated Practice Inc
Priya Kishnani is a Pediatrics provider in Durham, North Carolina. Dr. Kishnani is rated as an Elite provider by MediFind in the treatment of Glycogen Storage Disease Type 9. Her top areas of expertise are Pompe Disease, Glycogen Storage Disease Type 3, Hypophosphatasia (HPP), Glycogen Storage Disease Type 9, and Splenectomy. Dr. Kishnani is currently accepting new patients.
Stony Brook Ophthalmology, University Faculty Practice Corporation
Philip Skidd is a Neurologist and an Ophthalmologist in Stony Brook, New York. Dr. Skidd is rated as an Experienced provider by MediFind in the treatment of Glycogen Storage Disease Type 9. His top areas of expertise are Ptosis, Eyelid Drooping, Optic Nerve Atrophy, Transmyocardial Revascularization, and Stent Placement. Dr. Skidd is currently accepting new patients.
Mimi Tutihasi is a Pediatrics provider in University Place, Washington. Dr. Tutihasi is rated as an Experienced provider by MediFind in the treatment of Glycogen Storage Disease Type 9. Her top areas of expertise are Glycogen Storage Disease Type 0, Phosphoglycerate Mutase Deficiency, Glycogen Storage Disease Type 9, and Glycogen Storage Disease Type 13. Dr. Tutihasi is currently accepting new patients.
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