Glycogen storage disease type 2, also known as pompe disease or acid. Glycogen storage diseases journal of clinical pathology. 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. The effect is profound hypoglycemia with fasting attributable to inability to make glucose by gluconeogenesis or glycogenolysis. The types may be divided loosely into those where the enzymic lesion, and hence the. 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. Symptoms vary by the glycogen storage disease gsd type and can include muscle. Glycogen storage disease type vi gsd vi is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components of the associated phosphorylase.
Glycogen storage disease type 0 also known as gsd 0 is a condition caused by the bodys inability to form a complex sugar called glycogen, which is a major source of stored energy in the body. Glucose6phosphatase deficiency found in glycogen storage disease type i is identified as first specific enzymopathy in a hereditary disorder. Diagnosis and management of glycogen storage disease type i. Glycogen storage disease research david weinstein, md msc, is the worlds top researcher for glycogen storage disease gsd. Most of the glycogen storage diseases follow an autosomal recessive mode of inheritence. Potential treatment approach for glycogen storage disease. Glycogen storage disease 8 genetic and rare diseases. Glycogen is the storage form of glucose in our bodies. Glycogen storage disease type 0 genetics home reference nih. Diagnosis and management of glycogen storage disease type. 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 in muscles andor liver cells.
Glycogen storage diseases are carbohydrate metabolism disorders. 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 the american journal of clinical. A rendering of the human muscular form of phosphofructokinase. The hepatic glycogen storage diseases gsds are a group of disorders where abnormal storage or release of glycogen leads to potentially lifethreatening hypoglycemia and metabolic disturbances. Carrier screening to help detect the risk of having a baby with a specific inherited disorder, such as cystic fibrosis. 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. Mutations in the g6pc gene result in a deficiency in the glucose6phosphatase g6pase enzyme and account for. If you have problems viewing pdf files, download the latest version of adobe reader for language access assistance, contact the ncats public information officer genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree.
Often, infants born with gsd iv are diagnosed with enlarged livers and failure to thrive within their first year of life. Glycogen storage diseases definition of glycogen storage. A potential treatment strategy for an oftenfatal inherited glycogen storage disease has been identified by researchers. There are many numbered and named types, all of which are caused by deficiencies of enzymes involved in glycogen synthesis or. Mutations in the production of this enzyme are the cause of taruis disease. Brian mcardle in 1951 after studying a young man with exercise intolerance and muscle cramps. The diagnosis of glycogen storage disease in clinical practice. In 3 sibs with muscle and heart glycogen deficiency, kollberg et al.
Re sults of the european study on glycogen storage disease t ype i. Glycogen storage disease type v omim 232600 is a pure myopathic form of gsd affecting skeletal muscle. There are many numbered and named types, all of which are caused by deficiencies of enzymes involved in glycogen synthesis or breakdown. Jun 01, 2018 glycogen storage disease type 2, also known as pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder. Lack of hepatic glycogen synthase activity causes a. Glycogen storage disease research connecticut childrens. In july 2018, he launched the worlds first human gene therapy clinical trial to.
Glycogen synthase deficiency glycogen storage disease type 0 presenting with hyperglycemia and glucosuria. It is presumed that the branching enzyme, amylo1,4 pdf file. Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic disorders that involve the enzymes regulating glycogen metabolism. 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. Glycogen storage diseases types ivii differential diagnoses. A glycogen storage disease gsd, also glycogenosis and dextrinosis is a metabolic disorder. Nov 18, 2015 a potential treatment strategy for an oftenfatal inherited glycogen storage disease has been identified by researchers. Online mendelian inheritance in man 232200 is caused by a defect in the glucose6phosphatase.
Glycogen storage disease gsd involves defects that cause an abnormal accumulation of glycogen, usually found in the liver, muscle, or both. Glycogen storage disease type 0 genetics home reference. Glycogen is a form of stored glucose that the body uses as an energy source. Background glycogen storage disease type iii is an autosomal recessive disorder that is caused by deficiencies of the glycogen debranching enzyme. Glycogen serves as the primary fuel reserve for the bodys energy needs. Definition glycogen serves as the primary fuel reserve for the bodys energy needs. The glycogen storage diseases gsds are a group of inherited metabolic disorders that result from a defect in any one of several enzymes. Glycogen storage disease type iii genetics home reference nih. This gsd is also inherited as an autosomal recessive trait. Andersen disease gsdiv also known as glycogen storage disease type iv. Glycogen storage disease gsd is a condition where the body cannot release glucose from the glycogen stores due to a liver enzyme deficiency. Referral medical centers in the united states and canada. The association for glycogen storage disease agsd was established in 1979 in order to create an organization which would be a focus for parents of and individuals with glycogen storage disease gsd to communicate, share their successes and concerns, share useful findings, provide support, create an awareness of this condition for the public, and to stimulate research in the.
Metabolic disorders glycogen storage diseases md australia. Glycogen storage disease type iv gsd type iv is an extremely rare condition, representing only 0. Ppt glycogen storage disease glycogen storage disorders authorstream ppt glycogen storage diseases glycogen storage disease. A technique for the enzymatic diagnosis of glycogen storage disease on very small tissue specimens.
The hepatic glycogen storage diseases gsds are a group of inborn errors of metabolism caused by abnormalities of the enzymes that catalyze the synthesis or degradation of glycogen. This disease was the first metabolic myopathy to be recognized and was described by dr. Pdf glycogen storage disorders are a group of inborn errors of metabolism characterized by accumulation of glycogen in various tissues. It is presumed that the branching enzyme, amylo1,4 pdf file must be present in all tissues. 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. Possible causes include autoimmune hemolytic anemia. A unique modified cornstarch product for use in the dietary management of glycogen storage disease where a long acting starch is indicated. A technique for the enzymatic diagnosis of glycogen storage disease on. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for glycogen storage disease 8. Type i glycogen storage disease is associated with abnormalities in two genes. Glycogen storage disease in adults annals of internal. Glycogen storage disease type iv gsd type iv is an. Mar 17, 2016 glycogen storage disease type vi gsd vi is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components of the associated phosphorylase cascade system.
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 nord national organization. Alonso, in pediatric gastrointestinal and liver disease fourth edition, 2011. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. Gsd affects the liver, muscles and other areas of the body.
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 diseases msd manual professional edition. The disease is due to the deficiency of glucose6phosphatase for which glycogen cannot be broken down to liberate glucose and glucose6phosphate promotes glycogen synthesis. University of florida glycogen storage disease program. Table i summarizesthe types ofglycogen storage disease that are now recognized and the main tissues affected. Glycogen storage disease type 2 genetic and rare diseases. Biochemical and clinical aspects of glycogen storage diseases.
Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic. It is caused by deficient activity of the glycogen branching enzyme gbe, resulting in accumulation of abnormally formed glycogen in the liver, muscle, andor other tissues. The symmetry of the enzyme is a result of its tetrameric structure. Menorrhagia in patients with type i glycogen storage disease. Patients with the disorder lack the enzyme that enables their livers to. Online mendelian inheritance in man 232200 is caused by a defect in the glucose6phosphatase system. Glycogen storage diseases are due to either a deficiency or blockage of an enzyme that is important in converting glucose to glycogen so it can be. Glycogen storage diseases handbook association for glycogen. Glycogen storage disease type 0 also known as gsd 0 is a condition caused by the bodys inability to form a complex sugar called glycogen, which is a major source of stored energy in. The importance of glycogen metabolism is also highlighted by human genetic disorders that are caused by mutations in the enzymes involved.
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