Start a free trial of quizlet plus by thanksgiving lock in 50% off all year try it free. 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. Nutrition corner glycogen storage disease program uf. All classic disorders of carbohydrate metabolism result from a specific enzyme defect. Andersen disease, is an autosomal recessive disorder due to a deficiency of glycogen branching enzyme gbe. These metabolic diseases may be classified into three main groups, affecting the metabolism of. Dietary management of the ketogenic glycogen storage diseases. The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition.
Ppt glycogen storage disease glycogen storage disease ppt glycogen storage diseases glycogen storage disorders authorstream. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Any of various genetic diseases caused by deficiency of one of the enzymes involved in breaking down or synthesizing glycogen, resulting in storage of. 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. Glycogen storage disease an overview sciencedirect topics. Liver transplantation for glycogen storage disease types i, iii, and iv. Glycogen storage disease gsd is a rare genetic disorder that affects about one in 20,000 people in the u. In vitro studies of adipose tissue metabolism of glucose, glycerol and free fatty acids in glycogen storage disease type 1. In addition to causing increased storage of glycogen, the nonutilizable sugars enter alternative pathways causing an increase in lactic acid, triglycerides, and uric acid.
Glycogen storage disorders free download as powerpoint presentation. Glycogen storage disease iii forbes disease is a deficiency of amylo1,6glucosidase glycogen debranching enzyme, which leads to. Glycogen storage disease is a metabolic disease that affects your ability to synthesize or break down and use glycogen the storage form of glucose more on this in the next section. In gsd i liver is unable to generate free glucose in response. The diagnosis of glycogen storage disease in clinical practice. Pdf advances in molecular genetics 1,2,39,41 have led to the identification of the. Glycogen is the storage form of glucose in our bodies. The chart showing pdf series, html series, scan qr codes html series. 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. Weinstein glycogen storage diseases from glucose6 phosphate to create free glucose that can be released from the liver into the systemic.
Medical nutrition therapy diet glycogen storage disease 1. Glycogen storage disorders are a group of inborn errors of metabolism characterized by accumulation of glycogen in various tissues. These enzyme defects lead to abnormal tissue concentrations of glycogen or structurally abnormal forms of glycogen. Glycogen storage disease i is an indication for liver transplant and does not appear to recur in patients with transplants 4548. Glucose, a type of sugar, is the main source of energy for the body. However, some glycogen storage disorders can affect other parts of the body such as the kidney, heart, blood vessels, nervous system and bowel see below. Home glycogen storage disease programnutrition corner. Glycogen storage diseases gsd are inherited metabolic disorders of.
Glycogen storage diseases journal of clinical pathology. These disorders most commonly affect the muscle and liver where glycogen is the most abundant. In humans, gsd is a consequence of inborn errors of metabolism genetically defective enzymes. This accumulation is the histological hallmark of these. Glycogen storage diseases definition of glycogen storage. Glycogen storage disorders glycogen diseases and disorders. Glycogen storage diseases are caused by deficiencies of enzymes that regulate the synthesis of degradation of glycogen. Glycogen storage disorders gsd are a group of potentially lifethreatening genetic disorders present from birth. General nutrition guidelines for glycogen storage disease type i glycogen storage disease type i gsdi is a genetic metabolic disorder of the liver. Learn vocabulary, terms, and more with flashcards, games, and other study tools. Glycogen storage diseases gsds are a heterogeneous group of inherited disorders caused by inborn errors of glycogen metabolism. Glycogen storage disorders mostly tend to affect your liver and muscles. Ryman fromthe department ofbiochemistry, charing crosshospital medicalschool, hammersmith,london. The glycogen storage disorders american academy of.
It is stored in the form of glycogen in both the liver and muscles and later released with the help of enzymes when we dont eat. Children with glycogen storage diseases have a buildup of abnormal amounts or types of glycogen in their tissues. The glycogen storage diseases gsds are a group of inherited. Glycogen storage disease type i genetics home reference. 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. The two subtypes gsdia and gsdib are clinically indistinguishable. 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. 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. Patients with the disorder lack the enzyme that enables their livers to. Glycogen storage diseases are carbohydrate metabolism disorders and are caused by.
Glycogen storage disease type i gsd i is the most common of the glycogen storage diseases. 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. Types of metabolic disorders protein disorders amino acids phenylketonuria maple syrup urine disease organic acids methylmalonicaciduria propionic aciduria urea cycle citrullinemia argininosuccinic aciduria carbohydrate disorders galactosemia glycogen storage disease fatty acid disorders medium chain acyl coa dehydrogenase deficiency. Glycogen storage diseases gsds are a group of inherited genetic disorders that cause glycogen to be improperly stored in the body. Glycogen storage disorders are a group of inherited diseases. Gsd i causes the inability of the liver to breakdown glycogen to glucose which the body uses as its main source of fuel. After the debrancher has worked, phosphorylase active can again break down the linear straight or non branched. 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. This genetic disease is characterized by an impairment in livers ability to mobilize stored glycogen to maintain adequate blood glucose. A glycogen storage disease gsd, also glycogenosis and dextrinosis is a metabolic disorder. Thus, enzymatic defects along these pathways are associated with altered glucose metabolism and breakdown leading to hypoglycemia hepatomegaly and or liver disease in hepatic forms of glycogen storage disorder gsd and skeletal cardiac myopathy, depending on the site of the enzyme defects. Gsd type ia, caused by the deficiency of glucose6phosphatase g6pase catalytic activity.
Glycogen storage disease program choc childrens, orange. Get a printable copy pdf file of the complete article 3. Glycogen storage disorders glycogen storage disorders gsds are a group of inherited genetic defects of glycogen metabolism. Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic disorders that involve the enzymes regulating glycogen metabolism. Some untreated neonates present with severe hypoglycemia. Glycogen storage diseases gsd s comprise a constellation of disorders involving the disruption of glycogen metabolism. Inborn errors of carbohydrate metabolism knowledge for. Genedx is a world leader in genomics with an acknowledged expertise in rare and ultrarare genetic disorders, as well as an unparalleled comprehensive genetic testing menu. Symptoms vary by the glycogen storage disease gsd type and can include muscle. There are a number of different enzymes involved in glycogen synthesis, utilisation and breakdown within the body. The other types of glycogen storage disease showed no decrease m acid aglucosidase activity.
Almost all of these enzyme defects are inherited in an autosomal recessive fashion. Glycogen storage disease type iv branching enzyme deficiency. Glycogen storage disease type i gsdi is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. Fig 2a outer chain structure of the glycogen molecule after phosphorylase action. Test invitae comprehensive glycogen storage disease panel. 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. Potential treatment approach for glycogen storage disease. The disorders and their characteristics are listed in the table. When the body needs more energy, certain proteins called enzymes break down glycogen into glucose, and send the glucose into the body.
Diagnosis and management of glycogen storage disease type. Pediatric glycogen storage disease childrens pittsburgh. Glycogenstorage diseases are a group of autosomal recessive disorders characterized by developmental delays, kidney disease, delayed puberty and polycystic ovaries due to an inability to convert glycogen into glucose. The different types of glycogen storage disorder include. Glycogen storage diseases msd manual professional edition. 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. The acid aglucosidase activity was decreased only m the case of type ii glycogen storage disease pompes disease. Dietary management of the glycogen storage diseases. Biopsy data from child with type iii glycogen storage disease showing defect of both transferase. Definition glycogen serves as the primary fuel reserve for the bodys energy needs. The two major subtypes of glycogen storage disease type i gsdi are. Pdf glycogen storage disorders are a group of inborn errors of metabolism. The glycogen storage diseases gsds are a group of inherited metabolic disorders that result from a defect in any one of several enzymes required for either glycogen synthesis or glycogen degradation.
Glycogen storage disease type 7 gsd7 is an inherited condition in which the body is unable to break down glycogen a complex sugar in the muscle cells. Glycogen is a main source of energy for the body, and is stored in the liver. Glycogen storage disease gsd is a rare condition that changes the way the body uses and stores glycogen, a form of sugar or glucose. While all gsd i patients share this feature, there are two major subclassifications. People with gsd have trouble synthesizing and breaking down glucose, which can cause a laundry list of health issues, including chronic low. Glycogen storage disease pdf glycogen storage disease pdf glycogen storage diseases glycogen storage disease. Because glycogen is an important source of energy, this can interfere with the normal functioning of muscle cells. A potential treatment strategy for an oftenfatal inherited glycogen storage disease has been identified by researchers. Moreover, one patient with type ii disease also revealed a decrease in neutral aglucosidase activity. 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. A free powerpoint ppt presentation displayed as a flash slide show on id.
Glycogen storage diseases synonyms, glycogen storage diseases pronunciation, glycogen storage diseases translation, english dictionary definition of glycogen storage diseases. Deficiency of gbe results in the formation of an amylopectinlike compact glycogen molecule with fewer branching points and longer outer chains. Dietary interventions have markedly improved the outcome for these disorders, from a previously fatal condition to one where people can do well with. Gsd type ib, caused by a defect in glucose6phosphate exchanger slc37a4 transporter. Glycogen storage diseases handbook association for glycogen.