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Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms.
Mutations in the GBE1 gene cause GSD IV. The GBE1 gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of glycogen, which is a major source of stored energy in the body. GBE1 gene mutations that cause GSD IV lead to a shortage (deficiency) of the glycogen branching enzyme. As a result, glycogen is not formed properly. Abnormal glycogen molecules called polyglucosan bodies accumulate in cells, leading to damage and cell death. Polyglucosan bodies accumulate in cells throughout the body, but liver cells and muscle cells are most severely affected in GSD IV. Glycogen accumulation in the liver leads to hepatomegaly and interferes with liver functioning. The inability of muscle cells to break down glycogen for energy leads to muscle weakness and wasting.
GSD IV is estimated to occur in 1 in 600,000 to 800,000 individuals worldwide. Type IV accounts for roughly 3 percent of all cases of glycogen storage disease.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
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 Andersen Disease. 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 Dermatomyositis. 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.
Penn Neuroscience Center - Neurology
Jennifer Murphy is a Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Murphy is rated as a Distinguished provider by MediFind in the treatment of Andersen Disease. She is also highly rated in 26 other conditions, according to our data. Her clinical expertise encompasses Andersen Disease, Adult Polyglucosan Body Disease, CACH Syndrome, and Pelizaeus-Merzbacher Disease. Dr. Murphy is board certified in Neurology, 2014. Dr. Murphy 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 Andersen Disease. She is also highly rated in 18 other conditions, according to our data. Her clinical expertise encompasses Glycogen Storage Disease Type 13, Adult Polyglucosan Body Disease, Andersen Disease, and Glycogen Storage Disease Type 9. Dr. Nagar is board certified in American Board Of Psychiatry And Neurology - Neurology (Certified).
Summary: Collection and review of clinical information related to glycogen branching enzyme (GBE) deficiency, diagnosed as Glycogen Storage Disease Type IV (GSD IV) or Adult Polyglucosan Body Disease (APBD generated during clinic visits.
Published Date: February 01, 2013
Published By: National Institutes of Health