This is often enough to maintain the cells fuel needs and prevent longterm complications associated with poorly controlled gsd. These disorders most commonly affect the muscle and liver where glycogen is the most abundant. Children with glycogen storage diseases have a buildup of abnormal amounts or types of glycogen in their tissues. Glycogen storage disease type v omim 232600 is a pure myopathic form of gsd affecting skeletal muscle. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Glycogen is the storage form of glucose in our bodies.
Types 1b and 1c are associated with the defective microsomal transport of glucose6phosphate or pyrophosphatephosphate into the endoplasmic reticulum, where glucose6phosphatase converts glucose6phosphate into glucose and. Glycogen storage disease type iv gsd iv is an inherited disorder caused by the buildup of a complex sugar called glycogen in the bodys cells. Glycogen storage disorders are a group of inherited diseases. Jan 08, 2019 glycogen storage disease gsd is a rare genetic disorder that affects about one in 20,000 people in the u. Table i summarizesthe types ofglycogen storage disease that are now recognized and the main tissues affected. 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. The chart showing pdf series, html series, scan qr codes html series. Pace university school of nursing, pleasantville, ny the glycogen storage diseases gsds are a group of inherited metabolic disorders, each caused by deficiency of an enzyme involved in the production or breakdown of. Re sults of the european study on glycogen storage disease t ype i.
Dietary management of the ketogenic glycogen storage. Glycogen storage disease type i gsd i is an inherited disease that results in the liver being unable to properly break down stored glycogen. These enzyme defects lead to abnormal tissue concentrations of glycogen or structurally abnormal forms of glycogen. Due to a deficiency of glucose6phosphatase 2, glycogen stored in the liver cannot be metabolized. Gsd affects the liver, muscles and other areas of the body. 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. They result from a problem with one of the proteins known as enzymes involved in the conversion of glucose to glycogen, or the breakdown of glycogen back into glucose. Glycogen storage disease gsd is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
Glycogen storage disease type iv is autosomal recessive, which means each parent has a mutant copy of the gene but show no symptoms of the disease. Brian mcardle in 1951 after studying a young man with exercise intolerance and muscle cramps. As a result, glycogen accumulates in cells throughout the body. Diagnosis and management of glycogen storage disease type. There are five types of gsd iv, which are distinguished by their severity, signs, and. Glycogen storage diseases symptoms, diagnosis, treatments. Glycogen storage disease type iii diagnosis and management. Pediatric glycogen storage disease childrens pittsburgh. Glycogen storage disease type iv presenting as hydrops fetalis. Glycogenstorage disease type 1a is associated with the deficiency of glucose6phosphatase shieh et al.
In some of the glycogen storage diseases but not all maintaining the blood glucose levels is a very central and major problem. Glycogen storage disease type 2, also known as pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder. Dietary management of the ketogenic glycogen storage diseases. A patientparent handbook 3 chapter 1 the biochemistry of glycogen storage disease the underlying problem in all of the glycogen storage diseases is the use and storage of. This enzyme is composed of two independent catalytic subunits on one polypeptide chain, oligo1,4. Glycogen storage disease, any of a group of enzymatic deficiencies resulting in altered glycogen metabolism. Sometimes gsds are also referred to as glycogenoses because they are caused by difficulty in glycogen metabolism. Visser g, rake jp, fernandes j, labrune p, leonard jv, moses s, ullrich k, smit gp.
Childrens hospital at montefiorealbert einstein college of medicine, bronx, ny 2. The glycogen storage disorders american academy of. Symptoms and complications vary depending on the specific type of glycogen storage disease. Glycogen storage diseases gsds are a heterogeneous group of inherited disorders caused by inborn errors of glycogen metabolism. The liver forms type i, iii, iv and vi are marked by hepatomegaly due to increased liver glycogen and hypoglycemia caused by inability to convert glycogen to glucose. Glycogen storage disease type iii is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle.
Pace university school of nursing, pleasantville, ny the glycogen storage diseases gsds are a group of inherited metabolic disorders, each caused by deficiency of an enzyme involved in the production or breakdown of glycogen. Moreover, one patient with type ii disease also revealed a decrease in neutral aglucosidase activity. Most individuals improve their exercise tolerance by exploiting the second wind phenomenon with relief of myalgia and. Test invitae comprehensive glycogen storage disease panel. Association of the congenital neuromuscular form of glycogen storage disease type iv with a large deletion and recurrent frameshift mutation. This enzyme is composed of two independent catalytic subunits on one polypeptide chain, oligo1,41,4 glucantransferase and amylo1,6glucosidase.
Glukosa merupakan sumber energi yang besar bagi tubuh yang disimpan dalam bentuk glikogen utamanya di dalam jaringan hati dan otot dan akan dilepaskan ke dalam tubuh dengan pertolongan enzimenzim. 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. To identify complications amenable to prevention in adults with glycogen storage disease gsd types ia, ib, and iii and to determine the effect of the disease on social factors. It is caused by deficient activity of the glucose 6phosphatase enzyme gsd ia or a deficiency in the microsomal transport proteins. Glycogen storage diseases gsd are inherited metabolic disorders of. Jun 08, 2015 glycogen storage diseases glycogen storage disease is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types the gsds can be divided in three main groups. 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. Arg50ter is a socalled common pathogenic variant in exon 1 of pygm that results in a premature stop codon. Glycogen storage disease type i genetics home reference. The acid aglucosidase activity was decreased only m the case of type ii glycogen storage disease pompes disease. When the body needs more energy, certain proteins called enzymes break down glycogen into glucose. A patientparent handbook 4 figure 2 the glycogen thus stored serves as a reservoir for glucose when the bodys blood sugar drops below normal, or when the muscle exercises vigorously and needs more instantaneous energy.
Background glycogen storage disease type iii is an autosomal recessive disorder that is caused by deficiencies of the glycogen debranching enzyme. Glycogen storage disease type i is a rare autosomal recessive inherited disorder with an annual incidence of approximately 1100. Immunological studies on glycogen storage diseases type 3 and v. Often, infants born with gsd iv are diagnosed with enlarged livers and failure to thrive within their first year of life. Glycogen storage disease an overview sciencedirect topics. A glycogen storage disease gsd, also glycogenosis and dextrinosis is a metabolic disorder caused by enzyme deficiencies affecting either glycogen synthesis, glycogen breakdown or glycolysis glucose breakdown, typically within muscles andor liver cells. Glycogen storage disease gsd management and treatment. Aug 22, 2017 glycogen storage disorders are a group of inherited diseases. Glycogen storage disease type i gsd i is a rare disease of variable clinical severity that primarily affects the liver and kidney. Glycogen storage disease type iv genetics home reference. The diagnosis of glycogen storage disease in clinical practice. This impairment disrupts the livers ability to break down stored glycogen that is necessary to maintain adequate blood sugar levels. For types of gsd that involve the liver, treatment is aimed at keeping the right level of glucose in the blood.
Pdf glycogen storage disorders are a group of inborn errors of metabolism characterized by accumulation of glycogen in various tissues. 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. The effect is profound hypoglycemia with fasting attributable to inability to make glucose by gluconeogenesis or glycogenolysis. Glycogen storage diseases gsds are a group of inherited genetic disorders that cause glycogen to be improperly stored in the body.
Glycogen storage disease gsd is a rare condition that changes the way the body uses and stores glycogen, a form of sugar or glucose. Glycogen storage diseases msd manual professional edition. Glycogen storage disease gsd or glycogenosis comprise several inherited diseases caused by abnormalities of the enzymes that regulate the synthesis or degradation of glycogen in muscles, liver, and other cell types 16. Online mendelian inheritance in man 232200 is caused by a defect in the glucose6phosphatase system. Symptoms usually are precipitated by isometric exercise or sustained aerobic exercise. Results of the european study on glycogen storage disease type i. While glycogen storage disease type 2 is a single disease, it may be classified in 2 forms according to the rates of disease progression, its severity and the age at which symptoms start. Glycogen storage disease in adults annals of internal. Referral medical centers in the united states and canada. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type iii that is differentially expressed in liver and muscle.
Glycogen storage disease type 1b gsd1b is an inherited condition in which the body is unable to break down a complex sugar called glycogen. Demonstration of the presence of an immunoreactive protein in one case of muscle phosphorylase deficiency. The glycogen storage disorders american academy of pediatrics. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. Glycogen storage diseases are carbohydrate metabolism disorders. It affects 1 in 800,000 individuals worldwide, with 3% of all glycogen storage diseases being type iv. Glycogen storage diseases handbook association for glycogen. Diagnosis and management of glycogen storage disease type i. The other types of glycogen storage disease showed no decrease m acid aglucosidase activity. By sequencing genomic dna in a mennonite family segregating glycogen storage disease vi, chang et al. 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 iii gsd type iii is an autosomal recessive condition due to deficiency of the glycogen debranching enzyme.
In glycogen storage diseases, excessive glycogen buildup in the muscles andor liver, resulting in symptoms, such as low blood sugar, muscle cramps, slow growth and enlarged liver. They are subdivided on the basis of the specific deficiency into types designated o and by successive roman numerals. Page 1 of 2 background paper on glycogen storage disease glycogen storage disease gsd is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. The glycogen storage diseases gsds are a group of inherited metabolic disorders that result.
This panel may be appropriate for individuals with signs and symptoms of a gsd. Glycogen storage disease type 1a is associated with the deficiency of glucose6phosphatase shieh et al. General nutrition guidelines for glycogen storage disease type i glycogen storage disease type i gsdi is a genetic metabolic disorder of the liver. Apr 19, 2006 glycogen storage disease type v gsdv, mcardle disease is a metabolic myopathy characterized by exercise intolerance manifested by rapid fatigue, myalgia, and cramps in exercising muscles. Renal protection using converting enzyme inhibitors must be started should microalbuminuria be detected. Gsd i causes the inability of the liver to breakdown glycogen to glucose which the body uses as its main source of fuel. 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 gsd the underlying problem in all of the glycogen storage diseases is the use and storage of glycogen.
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. A glycogen storage disease gsd, also glycogenosis and dextrinosis is a metabolic. Symptoms vary by the glycogen storage disease gsd type and can include muscle. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type ib. Additionally, this panel may be appropriate for those in whom a gsd is suspected due to abnormal laboratory values, muscle or liver. Glycogen storage disease type v gsdv, mcardle disease is a metabolic myopathy characterized by exercise intolerance manifested by rapid fatigue, myalgia, and cramps in exercising muscles. Glycogen storage disease gsd is a rare genetic disorder that affects about one in 20,000 people in the u. Glycogen storage disease type v gsdv, mcardle disease is a metabolic myopathy characterized by exercise intolerance manifested by rapid glucogennosis, myalgia, and cramps in exercising muscles.
Most individuals improve their exercise tolerance by exploiting the second wind. In humans, gsd is a consequence of inborn errors of metabolism genetically defective enzymes. Gene therapy for glycogen storage diseases human molecular. This disease was the first metabolic myopathy to be recognized and was described by dr. Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic disorders that involve the enzymes regulating glycogen metabolism. Glucose 6phosphatase is the enzyme which controls thefinal common pathway for the release of glucose as the result of glycogenolysis and. The patientparent handbook glycogen storage disease.