The pathogenesis of hyperuricemia in glycogen storage. This enzyme is composed of two independent catalytic subunits on one polypeptide chain, oligo1,41,4 glucantransferase and amylo1,6glucosidase. This is the first reported case of costello syndrome complicated by glycogen storage disease. Glycogen storage disease type iv gsd type iv is an extremely rare condition, representing only 0. Type1c glycogen storage disease is not caused by mutations in the glucose6phosphate transporter gene. Symptoms vary by the glycogen storage disease gsd type and can include muscle. Glycogen storage disease type 1a genetic and rare diseases. Glycogen storage disease type i sucrose, fructose, galactose. There are many numbered and named types, all of which are caused by deficiencies of enzymes involved in glycogen synthesis or breakdown. 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. Gsd i is divided into two main types, gsd ia and gsd ib, which differ in cause, presentation, and treatment. Glycogen storage disease type iii in inuit children cmaj. Glycogen storage disease type i gsd i is a relatively rare metabolic disease and therefore, no metabolic centre has experience of. General nutrition guidelines for glycogen storage disease type i glycogen storage disease type i gsdi is a genetic metabolic disorder of the liver.
Only permitted foods may be added when seasoning cooking. Definition glycogen serves as the primary fuel reserve for the bodys energy needs. The types may be divided loosely into those where the enzymic lesion, and hence the accumulation ofpolysaccharide, are localized types i, v, vii, and those where a more generalized distribution amongst tissues is seen types ii, iii. Most individuals improve their exercise tolerance by exploiting the second wind phenomenon with relief of myalgia and. Pdf glycogen storage disease type iii masaomi nangaku. Glycogen storage disease type iii genetics home reference. Aug 22, 2017 in teenagers and adults, glycogen storage disorders usually cause tiredness fatigue, feeling weak when exercising, or the feeling of aching and weak muscles. 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. Unlike other forms of glycogen storage disease, gsd type 0 does not involve the storage of excessive or abnormal 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.
Glycogen storage disease type iii shows wide variability in age of onset, disease progression, and severity. Glycogen storage disease type 1b genetic and rare diseases. The first case of hepatic phosphorylase b kinase phk deficiency appeared in the literature in 1966 1. Glycogen storage disease type 3 an overview sciencedirect. It is an inherited disorder that affects the metabolism the way the body breaks food down into energy. 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. The pathogenesis of hyperuricemia in glycogen storage disease.
Table i summarizesthe types ofglycogen storage disease that are now recognized and the main tissues affected. Researchers have described two types of glycogen storage disease type 1, which differ in. This enzyme is composed of two independent catalytic subunits on one polypeptide. Molecular genetic analysis of 40 patients with glycogen storage disease type ia. Type i glycogen storage disease is associated with abnormalities in two genes. Symptoms usually are precipitated by isometric exercise or sustained aerobic exercise. It is caused by deficient activity of the glucose 6phosphatase enzyme gsd ia or a deficiency in the microsomal transport proteins. Re sults of the european study on glycogen storage disease t ype i. Pdf glycogen storage disorders are a group of inborn errors of metabolism. Gsd i is divided into two main types, gsd ia and gsd ib, which differ. Carrier screening to help detect the risk of having a baby with a specific inherited disorder, such as cystic fibrosis.
The glycogen storage disorders american academy of. Glycogen storage disease type iv, a fatal recessive inherited deficiency of the glycogen branching enzyme, has been described in quarter horse foals. Referral medical centers in the united states and canada. Mutations in the g6pc gene result in a deficiency in the glucose6phosphatase g6pase enzyme and account for approximately 80% of gsdi. Carrier frequency for glycogen storage disease type ii in new york and estimates of affected individuals born with the disease.
Nutrition management of glycogen storage disease type 1. Glycogen storage disease gsd is a rare genetic disorder that affects about one in 20,000 people in the u. 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. Glycogen storage disease, type 8 article pdf available in archives of disease in childhood 47255. Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic disorders that involve the enzymes regulating glycogen metabolism.
Glycogen storage disease type iii manifests a wide clinical spectrum. Diagnosis and management of glycogen storage disease type. Glycogen storage disease type i gsd i is a rare disease of variable clinical severity that primarily affects the liver and kidney. Glycogen storage diseases definition of glycogen storage. Glycogen storage disease type ii in spanish patients. Glycogen storage disease in adults annals of internal. This impairment disrupts the livers ability to break down stored glycogen that is necessary to maintain adequate blood sugar levels. Glucose sugar is the main source of fuel for the body and brain. Enzymatic assay showed a deficiency in debranching enzyme activity. 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 iii is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. Glycogen storage disease type 1 is an inherited disorder caused by the buildup of a complex sugar called glycogen in the bodys cells. Due to a deficiency of glucose6phosphatase 2, glycogen stored in the liver cannot be metabolized.
Pediatric glycogen storage disease childrens pittsburgh. Childrens hospital at montefiorealbert einstein college of medicine, bronx, ny 2. Correction of glycogen storage disease type 1a in a mouse model by gene therapy. Glycogen storage disease type i gsdi is a rare genetic metabolic disorder caused by a deficiency of the glucose6phosphatase gsdia or glucose6phosphate translocase enzyme gsdib. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. You are advised to consult the publishers version publishers pdf if you wish to cite.
Glycogen storage disease types 1a and 1b gsd1 are characterized by fasting hypoglycemia and elevated lactic acid, uric acid, cholesterol, and triglycerides. This enzyme is required for glycogen synthesis, and is encoded by the gys2 gene on chromosome 12. Symptoms associated with gsd i are attributed to low. Gsd affects the liver, muscles and other areas of the body. By mixing homogenates of the patients liver and of. Glycogen storage disease type 1b gsd1b is an inherited condition in which the body is unable to break down a complex sugar called glycogen. This type of gsdi is termed glycogen storage disease type ia. A case of costello syndrome and glycogen storage disease type. Glycogen storage disease type iii gsd type iii is an autosomal recessive condition due to deficiency of the glycogen debranching enzyme. Glycogen storage disease type i gsd i is a rare disease of variable. 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. As a result, glycogen accumulates in cells throughout the body. A case of costello syndrome and glycogen storage disease.
Two other forms, gsdiiic and gsdiiid are extremely rare, with. Glycogen storage disease gsd is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. University of groningen glycogen storage disease type i. Here we investigated the prevalence, characteristics and. The glycogen storage disorders american academy of pediatrics. Glycogen storage disease types pdf dandk organizer. Mutations in the slc37a4 gene result in a deficiency in the glucose6phosphatase translocase enzyme transporter. We report a 6 year old boy with costello syndrome and glycogen storage disease type iii. 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 disorders are a group of inherited diseases. He had a hypoglycaemic attack which caused generalised convulsions at the age of 3 years. Glycogen storage disease type 0 omim 240600 is caused by a deficiency of the enzyme hepatic glycogen synthase.
This rare autosomal recessive disease, which results from a deficiency of the debranching enzyme required for complete degradation of the glycogen molecule, has not been previously described in this population. Glycogen storage diseases msd manual professional edition. Diagnosis and management of glycogen storage disease type i. Glycogen storage diseases are carbohydrate metabolism disorders. The main types of glycogen storage diseases in children are categorized by number and name. Glycogen storage disease type i is a rare autosomal recessive inherited disorder with an annual incidence of approximately 1100. 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. Most individuals improve their exercise tolerance by exploiting the second wind phenomenon with relief of. Glycogen storage disease type iii gsd iii was diagnosed in 4 inuit children 3 confirmed, 1 suspected case at our institution over the last decade. Gsd i causes the inability of the liver to breakdown glycogen to glucose which the body uses as its main source of fuel. Aggressive therapy improves cirrhosis in glycogen storage. 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.
A glycogen storage disease gsd, also glycogenosis and dextrinosis is a metabolic disorder. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. 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. Glycogen storage disease type i genetics home reference.
Glycogen storage disease type iii also known as gsdiii or cori disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the bodys cells. Glycogen storage disease type i gsd i is an inherited disease that results in the liver being unable to properly break down stored glycogen. 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. In gsd1b, specifically, glycogen and fats build up within the liver and kidneys which can cause these organs to be enlarged and not function. 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. Some glycogen storage disorders, particularly type ib, can affect your immune system and make you more susceptible to infections. Glycogen storage disease type ix is likely the most common type of glycogen storage disease, but there has been minimal research on the natural history and treatment of this condition. Glycogen storage disease glycogen storage diseases priya kishnani glycogen storage disease gsd glycogen storage disease. Glycogen storage diseases handbook association for glycogen. Most patients have both liver and muscle involvement classified as type iiia.
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