Glycogen Storage Disease Type 9Symptoms, Doctors, Treatments, Advances & More
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.
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Priya Kishnani is a Pediatrics provider practicing medicine in Durham, North Carolina. Dr. Kishnani is rated as an Elite provider by MediFind in the treatment of Glycogen Storage Disease Type 9. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Pompe Disease, Glycogen Storage Disease Type 3, Hypophosphatasia (HPP), Glycogen Storage Disease Type 9, and Splenectomy. Dr. Kishnani is currently accepting new patients.
Charulatha Nagar is a Neurologist practicing medicine in Glenview, Illinois. Dr. Nagar is rated as a Distinguished provider by MediFind in the treatment of Glycogen Storage Disease Type 9. She is also highly rated in 18 other conditions, according to our data. Her clinical expertise encompasses Andersen Disease, Phosphoglycerate Mutase Deficiency, Glycogen Storage Disease Type 13, and Glycogen Storage Disease Type 0. Dr. Nagar is board certified in American Board Of Psychiatry And Neurology - Neurology (Certified). Dr. Nagar is currently accepting new patients.
Robert Gerber is a primary care provider, practicing in Internal Medicine in Grayslake, Illinois. Dr. Gerber is rated as an Experienced provider by MediFind in the treatment of Glycogen Storage Disease Type 9. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Sickle Cell Disease, Atopic Dermatitis, Glycogen Storage Disease Type 6, Fasciotomy, and Ureteroscopy. Dr. Gerber is board certified in American Board Of Internal Medicine - Internal Medicine (Certified). Dr. Gerber 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