The diagnosis of glycogen storage disease in clinical practice. Glycogen storage disease type 1b genetic and rare diseases. University of florida glycogen storage disease program. Glycogen storage diseases types ivii clinical presentation. Recent developments, management and outcome fulda, germany. Storage of cornstarch cs should be stored in an air tight container. 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 disease type iii is an autosomal recessive disease caused by mutations in the agl gene. Hyperuricemia was observed in fewer than half of the cases. Glycogen storage diseases gsds are a group of inherited genetic disorders. It is presumed that the branching enzyme, amylo1,4 glycogen in type ii is obscure, the defect see table in the pdf file. Glycogen storage 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. Aggressive therapy improves cirrhosis in glycogen storage.
However, only very little evidence on longterm management exists and most of the guidelines are so called best practice. Dec 08, 2019 currently 15 designated glycogen storage diseases gsd have been characterized. 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. Gsd i omim 232200 is caused by reduced activity of glucose6phosphatase. While glycogen storage disease type 2 is a single disease, it may be classified in 2 forms according to the rates of disease progression. Glycogen storage disease gsd is a rare genetic disorder that affects about one in 20,000 people in the u. Glycogen storage disease type 1a is caused by a deficiency of ppt. Our goal is to improve quality of life for families and individuals with all types of glycogen storage disease gsd.
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. Symptoms associated with gsdi are attributed to low. Section 504 of the rehabilitation act of 1973, gives rights under the federal law to students with disabilities. Glycogen storage disease type iii gsdiii is a rare disorder of glycogenolysis due to agl gene mutations, causing glycogen debranching enzyme deficiency and storage of limited dextrin. Biochemical and clinical aspects of glycogen storage diseases. A lack of glycogen breakdown interferes with the function of muscle cells. Hepatic glycogen storage diseases are associated to. Learn vocabulary, terms, and more with flashcards, games, and other study tools. Glycogen storage disease type 6 genetic and rare diseases nih. Glycogen storage disease type 2, also known as pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder. When the body needs more energy, certain proteins called enzymes break down glycogen.
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. Glycogen is the storage form of glucose in our bodies. Glycogen is a branched polysaccharide consisting of glucose units found primarily in animals, fungi and bacteria adevaandany et al. Glucose sugar is the main source of fuel for the body and brain. There was a consistent increase of aminotransferases in serum. It was described by pompe in 1932 and the infantile form is distinctly different from the later onset form of the disease. If your childs doctor suspects a glycogen storage diseases. Symptoms vary by the glycogen storage disease gsd type and can include muscle.
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. The glycogen storage diseases journal of clinical pathology. Jul 05, 2017 how well do you know glycogen storage diseases gsd. 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 shows wide variability in age of onset, disease. Glycogen storage disease gsd management and treatment.
Get a printable copy pdf file of the complete article 1. Glycogen storage disease type iii is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. What are the symptoms of glycogen storage disease type iii and what treatment is available. If cs is purchased in a bag or cardboard container, it should be good for up to 1 month. Glycogen storage diseases gsd are a part of inherited disorders in the metabolism of. Pompe disease glycogen storage disease type ii is an. Glycogen storage disease gsd is a rare autosomalrecessive disorder characterized by hypoglycemia, hepatosplenomegaly, seizures, and failure to thri. 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.
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. Diagnostic methods for lysosomal storage disease reports of. A study of 20 cases of glycogen storage disease type i has shown differences from the classical picture. Medical nutrition therapy diet glycogen storage disease 1. Often, infants born with gsd iv are diagnosed with enlarged livers and failure to thrive within their first year of life. Glycogen storage diseases practice question video breakdown. Glycogen storage disease action plan with letterhead. 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. Glycogen storage disease type v gsdv is a metabolic disorder, more specifically a glycogen storage disease, caused by a deficiency of myophosphorylase. Request pdf on researchgate glucogenosis tipo iii glycogenosis type iii is a genetic disease located in chromosome 1p21, inherited with recessive. The glycogen storage disorders american academy of. This causes excess glycogen to accumulate in muscles, liver. For types of gsd that involve the liver, treatment is aimed at keeping the right level of glucose in the blood.
Glycogen storage disease in adults annals of internal. 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. Sarkar the glycogen storage diseases gsd or glycogenoses are a heterogenous group of inborn errors of carbohydrate metabolism that lead to abnormal concentrations or structure of glycogen. Adrenal insufficiency, anorexia nervosa, atopic\u003cbr \\u003e\ndermatitis, autonomic dysfunction, coeliac disease, ectodermal dysplasia,\u003cbr \\u003e\nfamilial cholestasis byler\u2019s disease. A technique for the enzymatic diagnosis of glycogen storage disease on very small tissue specimens. Immunological studies on glycogen storage diseases type 3 and v. Gsd affects the liver, muscles and other areas of the body. Yes are approved or conditionally approved by new york state and do not require an nys npl exemption. Glycogen storage disease type iii glycogen debranching enzyme deficiency. Glycogen storage disease type i genetics home reference.
Once opened, cs should be good for up to two weeks from. Nigms collection glycogen storage diseases pathway. A glycogen storage disease is a metabolic disorder caused by enzyme deficiencies affecting either glycogen synthesis, glycogen breakdown or glycolysis. Correlation of biochemical defects with myopathy and cardiomyopathy. Glycogen storage disease gsd type iii, glycogen debranching enzyme deficiency, causes accumulation of glycogen in liver, skeletal, and cardiac muscle. Echocardiographic manifestations of glycogen storage disease iii.
Ppt glycogen storage disease glycogen storage disease ppt glycogen storage diseases glycogen storage disorders authorstream. Glycogen storage disease an overview sciencedirect topics. Introduction the gut microbiome has been related to several features present in glycogen storage diseases gsd patients including obesity, inflammatory bowel disease ibd and liver disease. Over a century of research on this macromolecule has led to many accomplishments. If purchased in plastic containers and factory sealed, the unopened cs should be good for up to 6 months. Glycogen storage disease type 3 pdf dandk organizer. Glycogen storage diseases are caused by deficiencies of enzymes that regulate the synthesis of degradation of glycogen. They cause glycogen to be improperly formed or released in the body. Glycogen storage disease diagnosis usually occurs in infancy or childhood as a result of the above symptoms.
Hers and his colleagues have pioneered the workonone ofthese txglucosidases, believed to be of lysosomal origin, which is res. 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 storage disease clinic mcgovern medical school. Glycogen storage disease type i gsdi is a genetic metabolic disorder of the liver.
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. Learn about glycogen storage disease gsd, when the body cant process glycogen properly. From the glycogen storage diseases gsds, congenital disorders arising from mutations in enzymes controlling glycogen. Its incidence is reported as one in 100,000, roughly the same as glycogen storage disease type i. The glycogen storage diseases gsds comprise a group of rare inherited disorders of glycogen metabolism. Glycogen storage disease studies related to the mechanism of glycogenosome formation t. Glycogen storage disease type vii genetics home reference nih. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alphaglucosidase enzyme. Guidelines for management of glycogen storage disease type. Liver transplantation for glycogen storage disease types i, iii, and iv. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for glycogen storage disease 8 skip to main content u. The following points highlight the top ten types of glycogen storage diseases. They are differentiated by their signs and symptoms and the age at which symptoms.
Full text full text is available as a scanned copy of the original print version. Ryman neutral and those acting at acid ph taylor and whelan, 1968. Definition glycogen serves as the primary fuel reserve for the bodys energy needs. Pdf pompe disease, a glycogen storage most notably in skeletal muscle disease. For more information about the disease, please go to the disease information page. Tada h, kurita t, ohe t, shimomura k, ishihara t, yamada y, osawa n. Glycogen storage disease type i gsdi is an autosomal recessive disorder caused by mutations in the glucose6phosphatase complex, leading to the accumulation of glycogen in the liver. Glycogen storage disease xi gsd11 new york clients tests displaying the status new york approved.
Glycogen storage disease type 1a is caused by a deficiency of glucose6phosphatase. In humans, gsd is a consequence of inborn errors of metabolism genetically defective enzymes. With a few exceptions, most forms of gsd inhibit glycogen breakdown. Type iv glycogen storage disease is a rare autosomal recessive condition caused by a brancher enzyme deficiency that results in the accumulation of an abnormal glycogen resembling amylopectin, a plant starch. Therefore, the total cost will be the cost of the enzyme assay plus the cost of the glycogen content and structure analysis. 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. Glycogen storage disease type iii genetics home reference nih pdf glycogen storage disease pdf glycogen storage disease type ia recent experience with pdf. Weve noticed this tends to be a difficult topic for our users thats why weve asked our partners at medcram to explain a glycogen storage diseases practice question from our usmle step 1 and comlex level 1 question banks in the past. The childrens fund for glycogen storage disease research is a public notforprofit 501c3 foundation established in 2002 to make a difference in the lives of children and their families. Gsd i causes the inability of the liver to breakdown glycogen to glucose which the body uses as its main source of fuel. Glycogen storage disease occurs when an enzyme proteins produced by the body that regulates conversion of sugar glucose into its storage form glycogen or release of glucose from glycogen.
The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Childrens hospital at montefiorealbert einstein college of medicine, bronx, ny 2. Glycogen storage disease 8 genetic and rare diseases. False positive sweat tests occur in the following\u003cbr \\u003e\nclinical settings2. Ppt glycogen storage disease powerpoint presentation free glycogen storage disease ppt online glycogen storage diseases glycogen storage. All patients had increased triglycerides in serum, but fewer than two thirds had increased concentrations of total cholesterol. The glycogen synthetic and degradation pathways involve a set of enzymes whose failure can lead to a group of diseases collectively known as glycogen storage diseases. Glycogen storage diseases the medical biochemistry page. Pediatric glycogen storage disease childrens pittsburgh. Clinical features help list of clinical features of the conditionphenotype displayed from sources such as the human phenotype ontology hpo and omim. Glycogen storage disease type vii gsdvii is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. 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.
As a result, glycogen accumulates in cells throughout the body. For types of gsd that involve the liver, treatment is aimed at keeping the right level of glucose. This is often enough to maintain the cells fuel needs and prevent longterm complications associated with poorly controlled gsd. Demonstration of the presence of an immunoreactive protein in one case of muscle phosphorylase deficiency. Glycogen storage disease gsd or glycogenosis comprise several inherited diseases caused by abnormalities of the enzymes that regulate the synthesis or. Lysosomal storage disorders lsd are a class of metabolic disturbance due to an absence of more than 40 hydrolytic enzymes in which. Glycogen storage disease type iii diagnosis and management. 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. Carrier screening to help detect the risk of having a baby with a specific inherited disorder, such as cystic fibrosis. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for glycogen storage disease. Glycogen storage diseases types v mcardle disease and vi hers disease are the result of a deficiency of glycogen phosphorylase, while glycogen storage disease type ix is due to deficiency of phosphorylase b kinase, the activating enzyme of glycogen phosphorylase.
Glycogen storage diseases definition of glycogen storage. Glycogen storage disease type ii, also called pompe disease, is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. School 504 plansiep plans each state has its own forms and some have different plans as well. Glycogenstorage disease type iii and this is an interesting video that i found in youtube about the histopathology of heart and liver in glycogen storage disease. Type ii is a prototype of inborn lysosomal storage diseases and involves many organs but primarily the muscle. 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. Dietary management of the glycogen storage diseases. 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. Glycogen storage disease type iii associated with ventricular tachycardia. A glycogen storage disease gsd, also glycogenosis and dextrinosis is a metabolic disorder caused by enzyme deficiencies affecting either glycogen synthesis, glycogen breakdown or. A novel starch for the treatment of glycogen storage diseases. Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic disorders that involve the enzymes regulating glycogen metabolism. The enzymes are found in the cytoplasm, the endoplasmic reticulum and the lysosome and many are specific to individual organs.
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