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. University of groningen glycogen storage disease type i. Glycogen storage disease gsd, is an inherited metabolic disorder that affects how you make and break down glycogen. Glycogen storage diseases are rare genetic disorders of glycogen synthesis, degradation, or metabolism regulation. Start studying glycogen storage diseases and disorders of metabolism. Storage of cornstarch cs should be stored in an air tight container. Glycogen storage disease type iv branching enzyme deficiency. Table 1 lysosomal storage diseases diagnosed from 1982 to 2017 by the reference laboratory of inborn errors of metabolism, medical genetics. Its rare, but those who have it suffer severe health consequences. Biochemical abnormalities such as very low glucose level leading to delayed growthdevelopment presenting in infancy. Andersen disease, is an autosomal recessive disorder due to a deficiency of glycogen branching enzyme gbe. Nov 08, 2015 the american liver foundation provides information about glycogen storage disease type 1.
Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy and to maintain steady blood glucose levels for the body. 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. Medical nutrition therapy diet glycogen storage disease 1. Treatment of glycogen storage diseases gsds are a group of inherited genetic disorders that cause glycogen to be improperly formed or released in the body.
Most lsds are inherited as autosomal recessive traits. Glycogen storage disease 1a jewish genetic disease. Hepatocellular failure in glycogen storage disorder type 3. Those disorders that result in abnormal storage of glycogen are known as glycogen storage diseases gsds. When the body needs more energy, certain proteins called enzymes break down glycogen into glucose. There are different types of gsd but all people who have gsd are born with the disease. Aug 21, 2014 there are a number of different enzymes involved in glycogen synthesis, utilisation and breakdown within the body. Gsd i is the most severe affecting both glycogen breakdown and gluconeogenesis.
From the glycogen storage diseases gsds, congenital disorders arising from mutations in enzymes controlling glycogen. This leads to enlargement of the kidneys, but usually does not directly affect renal kidney function. Researchers have described two types of glycogen storage disease type 1, which differ in. The lysosomal storage disorders lsds are a clinically heterogeneous group of inborn errors of metabolism, associated with the accumulation of incompletely. 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. Advances in molecular genetics 1,2,39,41 have led to the identification of the precise genetic abnormalities that cause the specific impairments of enzyme function of the various gsds. Top 10 types of glycogen storage diseases biology discussion. Glycogen storage diseases and disorders of metabolism. This can be seen in diabetes mellitus and glycogen storage diseases. Glycogen storage diseases gsds are inherited disorders that affect glycogen. Results of the european study on glycogen storage disease type i esgsd i. Glycogen storage disease, any of a group of enzymatic deficiencies resulting in altered glycogen metabolism. Diagnostic methods for lysosomal storage disease reports of.
University of florida glycogen storage disease program uf gsd team vol. Glycogen storage disorders glycogen storage disorders gsds are a group of inherited genetic defects of glycogen metabolism. The disease results in various complications as described in the article. Glycogen storage disease type i nord national organization. Glycogen storage disorders these are a group of inherited disorders associated with glycogen metabolism, familial in incidence and characterized by deposition of normal or abnormal type and quantity of glycogen in the 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 national organization for rare disorders nord has a report for patients and families about this condition. Investigation and management of the hepatic glycogen storage diseases the glycogen storage diseases gsd comprise a group of disorders that involve the disruption of metabolism of glycogen. Recent developments, management and outcome fulda, germany. The objective of this study was to describe the perioperative course of a cohort of. When these patients are subjected to anesthesia, perioperative complications can develop, including hypoglycemia, rhabdomyolysis, myoglobinuria, acute renal failure, and postoperative fatigue.
The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. If cs is purchased in a bag or cardboard container, it should be good for up to 1 month. This accumulation is the histological hallmark of these disorders although the phenotype shows variable overlap. Gsds primarily affect the liver, the muscle, or both. They are subdivided on the basis of the specific deficiency into types designated o and by successive roman numerals. The lysosomal storage diseases lsds are a group of inherited metabolic disorders that are caused for the most part by enzyme deficiencies within the lysosome. Pediatric glycogen storage disease childrens pittsburgh. Symptoms vary by the glycogen storage disease gsd type and can include muscle. Biochemical and clinical aspects of glycogen storage diseases.
Symptoms include enlarged spleen, gastrointestinal problems, recurrent infection, and pancreatitis. The disease is caused by increased glucose accumulation in the liver. It is an inherited disorder that affects the metabolism the way the body breaks food down into energy. This is often enough to maintain the cells fuel needs and prevent longterm complications associated with poorly controlled gsd. Glycogen storage disease type ix gsdix is a group of at least four disorders characterized by a deficiency of the enzyme phosphorylase kinase. Glycogen storage disease type ix genetics home reference. Glycogen storage diseases gsds are a group of inherited genetic disorders that cause glycogen to be improperly stored in the body. Type i glycogen storage disease is inherited as an autosomal recessive genetic disorder. Type ii is a prototype of inborn lysosomal storage diseases and involves many organs but primarily the muscle. Frequently asked questions association for glycogen storage.
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. Get a printable copy pdf file of the complete article 3. Glucose6phosphatase deficiency is also known as hepatorenal glycogen storage disease. There are a number of inborn errors of glycogen metabolism that result from mutations in genes for virtually all of the proteins involved in glycogen synthesis, degradation, or regulation. Children with glycogen storage diseases have a buildup of abnormal amounts or types of glycogen in their tissues.
Full text full text is available as a scanned copy of the original print version. The objective of this study was to describe the perioperative course of a cohort. Glycogen storage disorders gsds are a group of inherited genetic defects of glycogen metabolism. Links to pubmed are also available for selected references. Investigation and management of the hepatic glycogen. Clinical features help list of clinical features of the conditionphenotype displayed from sources such as the human phenotype ontology hpo and omim. If purchased in plastic containers and factory sealed, the unopened cs should be good for up to 6 months. Jun 01, 2018 the nord physician guide for glycogen storage disease type 2 was developed as a free service of the national organization for rare disorders nord and its medical advisors. May 16, 2009 liver glycogen storage disorders gsd i, the hepatic presentations of gsd iii, gsd iv, gsd vi, the liver forms of gsd ix, and gsd 0. Gsd ia and ib are the result of the glucose6p phosphatase and transporter, the failure to breakdown glycogen in the lysosome is the basis of gsd ii, gsd iii is due. In humans, gsd is a consequence of inborn errors of metabolism genetically defective enzymes. Patients with glycogen storage diseases undergoing. Often, infants born with gsd iv are diagnosed with enlarged livers and failure to thrive within their first year of life.
Learn vocabulary, terms, and more with flashcards, games, and other study tools. The glycogen storage diseases journal of clinical pathology. 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. In the diagram, the enzymes whose failure leads to the distinct glycogen storage disorders are underlined and clicking on them will show a list of samples in the nigms repository. National institutes of health nih carrier frequency. Nigms collection glycogen storage diseases pathway. Glycogen is a branched polysaccharide consisting of glucose units found primarily in animals, fungi and bacteria adevaandany et al. Gsd i is divided into two main types, gsd ia and gsd ib, which differ in cause, presentation, and treatment. Potential treatment approach for glycogen storage disease. Glycogen is a branchedchain polymer of glucose and serves as a dynamic but limited reservoir of glucose, mainly in liver, skeletal muscle, heart, and sometimes the central nervous system and the kidneys. Patients with glycogen storage diseases undergoing anesthesia. The disorders and their characteristics are listed in the table. Over a century of research on this macromolecule has led to many accomplishments.
Lysosomal storage disorders lsd comprise a group of inherited metabolic diseases imd that occur secondary to genetic. Glycogen storage disorders glycogen is a branchedchain polymer of glucose and serves as a dynamic but limited reservoir of glucose, mainly in liver, skeletal muscle, heart, and sometimes the central nervous system and the kidneys. Glycogen storage diseases are caused by deficiencies of enzymes that regulate the synthesis of degradation of glycogen. The enzymes are found in the cytoplasm, the endoplasmic reticulum and the lysosome and many are specific to individual organs. Radiological and clinical characterization of the lysosomal storage. Dec 06, 2012 glycogen storage disease type iiidebranching enzyme deficiency gsd iii, also known as cori or forbesdisease, is an autosomal recessivedisorder due to deficiency of gde whichcauses storage of glycogen with anabnormally compact structure, known asphosphorylase limit dextrin 10. This enzyme is necessary to break down metabolize a type of complex sugar known as glycogen. Glycogen storage disease type i genetics home reference. For more information about the disease, please go to the disease information page. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic disorders that involve the enzymes regulating glycogen metabolism. Picmonic is research proven to increase your memory retention and test scores.
Theglycogen storage diseases 109 typeanddefect mainsymptoms localized i massive hepatomegaly, severe hypoglycaemia, acidosis, t serum lipids, serumlactate and vongierkeglucose6phosphatase uric acid v easy fatigueability, painful crampsafter strenuous exercise. Glycogen is stored in various organs including skeletal muscle, the kidneys and liver. The liver glycogen storage disorders gsds comprise gsd i, the hepatic presentations of gsd iii, gsd iv, gsd vi, the liver forms of gsd ix, and gsd 0. Glycogen storage disease type iv, also known as glycogen branching enzyme deficiency, andersens disease or amylopectinosis is a rare inherited metabolic disorder. This comes from the fact that there is storage of glycogen within the kidney as well as the liver. 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. The different forms of the condition can affect glycogen breakdown in liver cells or muscle cells or sometimes both. Theglycogen storage diseases 109 typeanddefect mainsymptoms localized i massive hepatomegaly, severe hypoglycaemia, acidosis, t serum lipids, serumlactate and vongierkeglucose6phosphatase uric acid v easy fatigueability, painful crampsafter strenuous exercise mcardlemuscle phosphorylase myoglobinuria vii asin type v taruimuscle. Glycogen storage disease medical definition merriam. Glycogen storage disease gsd glucose is a large energy source for the body.
The glycogen storage diseases gsds are a group of inherited metabolic disorders that result from a defect in any one of several enzymes. Lysosomal storage diseases lsds are a large group of genetic metabolic disorders that result in the accumulation of abnormal material, such. The abnormal accumulation of glycogen within the cytoplasm of cells is called glycogen infiltration. Glycogen storage disease type 2 genetic and rare diseases. Read more about symptoms, diagnosis, treatment, complications, causes and. Gsd i, iii, vi, and ix present with hypoglycemia, marked hepatomegaly,and growth retardation.
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. For types of gsd that involve the liver, treatment is aimed at keeping the right level of glucose in the blood. Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy for the body. Lysosomal storage disorders lsd are a class of metabolic disturbance due to an absence of more than 40 hydrolytic enzymes in which. But there are some promising therapies, including the keto diet. Pdf pompe disease, a glycogen storage most notably in skeletal muscle disease type ii is. Glycogen is the storage form of glucose in our bodies. The overall incidence of gsds is estimated to be 1 in 20,00043,000 births.
Glycogen storage disease type iv genetics home reference. Glycogen storage disease type 5 gsd5, also known as myophosphorylase deficiency or mcardles disease, is a rare inherited metabolic disorder, characterized by exercise intolerance. Glycogen storage disease gsd is a rare condition that changes the way the body uses and stores glycogen, a form of sugar or glucose. They are characterized by the accumulation of abnormal amounts or types of glycogen in tissues, glycogen is the storage form of glucose in our bodies. Some untreated neonates present with severe hypoglycemia. Glycogen storage disorders gsds are a group of inherited inborn errors of metabolism caused by deficiency or dysfunction of these enzymes. Definition glycogen serves as the primary fuel reserve for the bodys energy needs. The two subtypes gsdia and gsdib are clinically indistinguishable. Nord is a patient advocacy organization for individuals with rare diseases and the organizations. Patients with the disorder lack the enzyme that enables their livers to.
The glycogen storage diseases and related disorders. It is stored by the body in the form of glycogen and released into the blood as needed with the help of special proteins called enzymes. Treatment of glycogen storage disease, glycogen storage. Glycogen storage disease type i gsdi is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. The clinical manifestations fall into two groups, those associated. Deficiency of gbe results in the formation of an amylopectinlike compact glycogen molecule with fewer branching points and longer outer chains. Glycogen storage disease type 1b genetic and rare diseases. Gsd affects the liver, muscles and other areas of the body. There are a number of different enzymes involved in glycogen synthesis, utilisation and breakdown within the body. University of florida glycogen storage disease program. Glycogen storage disorder 3 limit dextrinosis, debrancher enzyme deficiency, cori or forbes disease was originally reported by snappes and van crevald in 1928. 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 diseases gsd are a part of inherited disorders in the metabolism of. Once opened, cs should be good for up to two weeks from. Glycogen storage disorders academic dictionaries and. The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition. Glycogen storage disease type i genetics home reference nih. Learn glycogen storage diseases in pediatric disorders pediatrics usmle step 2 for medicine faster and easier with picmonics unforgettable images and stories. Glycogen storage diseases gsds are a group of inherited genetic disorders. Glycogen is the reserve carbohydrate of the body and is chiefly stored in the liver and muscles.
Glycogen storage disease type 1 is an inherited disorder caused by the buildup of a complex sugar called glycogen in the bodys cells. Glycogen storage diseases definition of glycogen storage. Glycogen storage disease type vii gsd vii is characterized by weakness, pain and stiffness during exercise. However, only very little evidence on longterm management exists and most of. They cause glycogen to be improperly formed or released in the body. Glycogen storage disease gsd management and treatment. This impairment disrupts the livers ability to break down stored glycogen that is necessary to maintain adequate blood sugar levels. Enzyme replacement therapy for lysosomal storage disorders. Glucose is a simple sugar, which is a form of carbohydrate. A potential treatment strategy for an oftenfatal inherited glycogen storage disease has been identified by researchers. 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 disorders are a group of inborn errors of metabolism characterized by accumulation of glycogen in various tissues. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling.
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