It is caused by deficient activity of the glucose 6phosphatase enzyme gsd ia or a deficiency in the microsomal transport proteins for glucose 6phosphate gsd ib. Glycogen storage disorders are a group of inherited diseases. It is caused by deficient activity of the glucose 6phosphatase enzyme gsd ia or a deficiency in the microsomal transport proteins. In vitro studies of adipose tissue metabolism of glucose, glycerol and free fatty acids in glycogen storage disease type 1. This genetic disease is characterized by an impairment in the livers ability to break down stored glycogen to maintain adequate blood glucose. It is caused by deficient activity of the glucose 6phosphatase enzyme gsd ia or a. Visser g, rake jp, kokke ft, nikkels pg, sauer pj, smit gp. Type i glycogen storage disease is associated with abnormalities in two genes. General nutrition guidelines for glycogen storage disease type i glycogen storage disease type i gsdi is a genetic metabolic disorder of the liver. Analysis of g6pt encoding a microsomal transporter protein has. Pdf granulocyte colonystimulating factor in glycogen. Jun 22, 2019 glycogen storage disease gsd, also referred to as glycogenosis, refers to a number of different diseases, all of which are caused by inherited abnormalities of enzymes that are involved in the formation or breakdown of glycogen. Glycogen storage disease type 1 pdf dandk organizer. Granulocyte colonystimulating factor in glycogen storage disease type 1b.
In gsd1b, specifically, glycogen and fats build up within the liver and kidneys which can cause these organs to be enlarged and not function. Glycogen storage disease type 1 is an inherited disorder caused by the buildup of a complex sugar called glycogen in the bodys cells. The pathogenesis of hyperuricemia in glycogen storage disease. This genetic disease is characterized by an impairment in the livers ability to break down stored glycogen. Glycogen storage disease type 1 is an autosomal recessive disorder caused by defects in the glucose 6phosphatase g6pase complex, which catalyzes the terminal steps of both hepatic gluconeogenesis and glycogenolysis, the hydrolysis of glucose 6phosphate to glucose and inorganic phosphate. Gsd i causes the inability of the liver to breakdown. Deficiency of g6pase activity in liver, kidney, and. Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic disorders that involve the enzymes regulating glycogen metabolism. Glycogen storage disease gsd is a rare genetic disorder that affects about one in 20,000 people in the u. Glycogen storage disease, type 8 article pdf available in archives of disease in childhood 47255. Mutation analysis in glycogen storage disease type 1 nona. People with gsd have trouble synthesizing and breaking down glucose, which can cause a.
Glycogen storage disease type iii nord gratefully acknowledges terry g. Glycogen storage disease gsd is a genetic condition in which the body has an enzyme problem and is not able to store or break down the complex sugar glycogen properly. It is caused by deficient activity of the glucose 6phosphatase enzyme gsd ia or. Gene therapy for glycogen storage diseases human molecular. Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic.
Glycogen storage diseases definition of glycogen storage. Glycogen storage disease type 1a genetic and rare diseases. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Clinically, it can be classified into five subtypes with significant variability in severity, age of onset and clinical features.
The glycogen storage diseases are individually rare, with incidences ranging from 1. Figure 3 summarizes the enzymic mechanisms which are responsible for glycogen synthesis. Type ii affects nearly all organs, including the heart. Gsd i causes the inability of the liver to breakdown glycogen to glucose which the body uses as its main source of fuel. Glycogen storage disease type iv gsd iv, or andersen disease is an autosomal recessive disorder due to the deficiency of 1,4alphaglucan branching enzyme or glycogen branching enzyme, gbe1. They are differentiated by their signs and symptoms and the age at which symptoms. Glycogen storage disease type 1 is an autosomal recessive disorder caused by defects in the glucose 6phosphatase g6pase complex, which catalyzes the terminal. It has to be kept in mind whenever important hepatomegaly andor hypoglycemia are present. Diagnosis and management of glycogen storage disease type. Only permitted foods may be added when seasoning cooking. Dec 08, 2010 glycogen storage disease type 1 is an inherited disorder caused by the buildup of a complex sugar called glycogen in the bodys cells. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis.
Hyperuricemia in glycogenstorage disease type 1 jama. Glycogen storage disease gsd management and treatment. Pediatric glycogen storage disease childrens pittsburgh. General nutrition guidelines for glycogen storage disease type 0 glycogen storage disease type 0 gsd 0 is a genetic metabolic disorder which causes the inability to break down glycogen to glucose. Glycogen storage disease type i sucrose, fructose, galactose free diet food group foods permitted foods need to be omitted meat and fowl plain beef, pork, chicken, turkey, lamb and veal. Nutrition management of glycogen storage disease type 1. Gsd affects the liver, muscles and other areas of the body. Case reports in medicine hindawi publishing corporation. Glycogen storage disease type 1b genetic and rare diseases. Glycogen storage disease type i gsd i is a relatively rare metabolic disease with variable clinical intensity. Certain ethnicities may have a higher prevalence of specific glycogen storage diseases. Glycogen storage disease type i gsd i is a rare disease of variable clinical severity that primarily affects the liver and kidney. Results of the european study on glycogen storage disease type 1. Symptoms vary by the glycogen storage disease gsd type and can include muscle.
The diagnosis of glycogen storage disease in clinical practice. Derks, md, phd, and irene hoogeveen, mdphdstudent, section of metabolic diseases, beatrix childrens hospital, university. It is an inherited disorder that affects the metabolism the way the body breaks food down into energy. Glycogen storage disease type 1 an overview sciencedirect.
In gsd1b, specifically, glycogen and fats build up within the liver and kidneys which can cause these organs to be enlarged and not function properly. Differentiation ofthe glycogen storagediseases the differential diagnosis of the glycogen storage. Glycogen storage disease type 1 is an inherited disorder caused by the. We report molecular and clinical findings in patients with rare types of glycogen storage disease 1 gsd1 nona. Mutations in the g6pc gene result in a deficiency in the glucose6phosphatase g6pase enzyme and account for. Intestinal function in glycogen storage disease type i.
Glycogen storage disease type i sucrose, fructose, galactose. The main types of glycogen storage diseases in children are categorized by number and name. Glucose sugar is the main source of fuel for the body and brain. Glycogen storage disease type 1 gsd1 is a disorder of glycogen breakdown and gluconeogenesis. These enzyme defects lead to abnormal tissue concentrations of glycogen or structurally abnormal forms of glycogen. Glycogen storage disease types 1a and 1b gsd 1 are characterized by fasting hypoglycemia and elevated lactic acid, uric acid, cholesterol, and triglycerides. Glycogen storage disease type vii genetics home reference nih. Glycogen storage disease type i is a rare condition, but with possible lifethreatening consequences. The disease is due to the deficiency of glucose6phosphatase for which glycogen cannot be broken down to liberate glucose and glucose6phosphate promotes glycogen synthesis.
As a result, glycogen accumulates in cells throughout the body. Glycogen storage disease type i gsd i is the most common of the glycogen storage diseases. Molecular diagnosis of glycogen storage disease type i. People with gsd have trouble synthesizing and breaking down glucose, which can cause a laundry list of health issues, including chronic low blood sugar, enlarged liver, weak muscles, and more. Glycogen storage diseases are caused by a genetic enzyme defect that is inherited from both parents. Nov 08, 2015 glycogen storage disease type 1b gsd1b is an inherited condition in which the body is unable to break down a complex sugar called glycogen.
Glycogen storage disease type i genetics home reference. Type 1 glycogen storage disease gsd1 is an autosomal recessive disorder that was first described in 1929 by e. Glycogen storage disease type 1b gsd1b is an inherited condition in which the body is unable to break down a complex sugar called glycogen. Jan 30, 2019 glycogen storage disease type i gsd i is a relatively rare metabolic disease with variable clinical intensity. The disease results in various complications as described in the article. Glycogen storage disease gsd, also referred to as glycogenosis, refers to a number of different diseases, all of which are caused by inherited abnormalities of enzymes that are. Gsd i is divided into two main subclassifications, gsd ia and gsd ib, which are distinct in cause. Glycogen storage disease type 1b gsd1b is an inherited condition in which. Glycogen storage disease types 1a and 1b gsd1 are characterized by fasting hypoglycemia and elevated lactic acid, uric acid, cholesterol, and triglycerides. The pathogenesis of hyperuricemia in glycogen storage. Diagnosis and management of glycogen storage disease type i. Glycogen storage disease glycogen storage disease glycogen storage disease glycogen storage disease type i.
A lack of glycogen breakdown interferes with the function of muscle cells. Glycogen storage disease type i glycogen storage disease. They result from a problem with one of the proteins known as enzymes involved in the conversion of glucose to glycogen, or the. Analysis of g6pt encoding a microsomal transporter protein has revealed mutations on both chromosomes in each case, four of which are novel. Therapy instituted at or before 1 year of age that maintains optimal metabolic control may delay, prevent, or slow the progression of renal disease. 8303 november 1972 with 776 reads how we measure reads. The glycogen storage diseases that mainly affect muscles are types v and vii. Glycogen storage disease type 1 is an autosomal recessive disorder caused by defects in the glucose 6phosphatase g6pase complex, which catalyzes the terminal steps of both hepatic gluconeogenesis. The disease is caused by increased glucose accumulation in the liver. Often, infants born with gsd iv are diagnosed with enlarged livers and failure to thrive. Autosomal recessive genetic disorder results in lack of enzyme glucose6. Normally, enzymes help convert glucose into glycogen for storage. Re sults of the european study on glycogen storage disease t ype i.
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