Glycogen Storage Disease Type 9Symptoms, Doctors, Treatments, Advances & More
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 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 10 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.
Neuromuscular Research Center
Kumaraswamy Sivakumar is a Neurologist practicing medicine in Phoenix, Arizona. Dr. Sivakumar is rated as a Distinguished provider by MediFind in the treatment of Glycogen Storage Disease Type 9. He is also highly rated in 73 other conditions, according to our data. His clinical expertise encompasses Inclusion Body Myositis, Myasthenia Gravis, Chronic Inflammatory Demyelinating Polyneuropathy, and Pompe Disease. Dr. Sivakumar is board certified in Psychiatry & Neurology (Neurology), Psychiatry & Neurology (Sub: Clinical Neurophysiolog, and Psychiatry & Neurology (Sub: Neuromuscular Medicine). Dr. Sivakumar is currently accepting new patients.
Charulatha Nagar is a Neurologist practicing medicine in Glenview, Illinois. She has been practicing medicine for over 36 years. 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 Adult Polyglucosan Body Disease, Andersen Disease, Glycogen Storage Disease Type 13, and Phosphoglycerate Mutase Deficiency. Dr. Nagar is board certified in American Board Of Psychiatry And Neurology - Neurology (Certified).
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