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. Enable javascript to view the expandcollapse boxes. Glycogen storage disease type 0 omim 240600 is caused by a deficiency of the enzyme hepatic glycogen synthase. Andersen disease gsd iv nord national organization for rare. We report a 6 year old boy with costello syndrome and glycogen storage disease type iii. The diagnosis of glycogen storage disease type iv gsd iv is suspected based on the clinical presentation and the finding of abnormally branched glycogen accumulation in muscle or liver tissue. There are five types of gsd iv, which are distinguished by their severity, signs. Stenoocclusive cerebral arteriopathy in patients with. A patient with glycogen storage disease type ia combined. Glycogen storage disease type iii is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. For types of gsd that involve the liver, treatment is aimed at keeping the right level of glucose in the blood.
Glycogen branching enzyme gbe deficiency andersens disease or amylopectinosis, or glycogen storage disease type 4 gsd4, is a rare and severe form of glycogen storage disease which. Mossderived human recombinant gaa provides an optimized. Gondal anita khalil glycogen storage disease gsd type iii is caused by deficiency of the enzyme amylo1,6 glucosidase debranching enzyme leading to the storage of an abnormal glycogen with short outer chains called limit dextrinsl. He had a hypoglycaemic attack which caused generalised convulsions at the age of 3 years.
Dietary management of the ketogenic glycogen storage. Glycogen storage disease gsd is a rare genetic disorder that affects about one in 20,000 people in the u. The clinical manifestations of glycogen storage disease type iv gsd iv discussed in this entry span a continuum of different subtypes with variable ages of onset, severity, and clinical features. This article, however, will only cover the first eight, not counting the subtypes within each type. 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. Apbd is characterized by the accumulation of poorlybranched glycogen molecules which aggregate to form pathogenic inclusions, called polyglucosan bodies. Table i summarizesthe types ofglycogen storage disease that are now recognized and the main tissues affected. Glycogen storage disease type v gsdv is a metabolic disorder, more specifically a glycogen storage disease, caused by a deficiency of myophosphorylase. In a singleblind, randomized, placebocontrolled crossover study, 12 patients were studied. Alittle over 70 years later, two forms ofglycogen storage disease wererecognized. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. The invitae comprehensive glycogen storage disease panel analyzes 25 genes associated with various glycogen storage diseases gsd s. Claude bernard first isolated glycogen from the liver in 1857 anddescribed its chemical andphysiological properties.
Glycogenosis type 4, andersen disease springerlink. Excessive production of uric acid in type i glycogen storage disease. Glycogen storage disease type 4 genetic and rare diseases nih. Feb 21, 2019 hepatic and neuromuscular forms of glycogen storage disease type iv caused by mutations in the same glycogenbranching enzyme gene. Glycogen storage disease type iv gsdiv is an autosomal recessive disease caused by a deficient glycogen branching enzyme gbe, encoded by the gbe1 gene, resulting in the accumulation of. General nutrition guidelines for glycogen storage disease type i glycogen storage disease type i gsdi is a genetic metabolic disorder of the liver. Andersen disease gsd iv nord national organization. Pediatric glycogen storage disease childrens pittsburgh. This is often enough to maintain the cells fuel needs and prevent longterm complications associated with poorly controlled gsd. There are a number of different enzymes involved in glycogen synthesis, utilisation and breakdown within the body. Clinical findings vary extensively both within and between families. Type iv glycogen storage disease is a rare autosomal recessive condition.
Aug 21, 2014 mcardles disease glycogen storage disease type v i agree that there is very little information about this condition. 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. Medical nutrition therapy diet glycogen storage disease 1. A genetic study of glycogen storage disease type 3. Glycogen storage diseases are caused by deficiencies of enzymes that regulate the synthesis of degradation of glycogen. Glycogen storage disease treatment will depend on the type of disease and the symptoms. 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. This enzyme is necessary for making glycogen, a major source of stored energy in the body. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Type i glycogen storage disease is inherited as an autosomal recessive genetic disorder. Differentiation ofthe glycogen storagediseases the differential diagnosis of the glycogen storage type enzyme defect tissues affected localized i glucose6phosphatase liver, kidney, andsmall.
Glycogen storage diseases are characterized by deficiencies of certain enzymes involved in the metabolism of glycogen, leading to an accumulation of abnormal forms or amounts of glycogen in various parts of the body, particularly the liver and muscle. The severity of this disease varies on the amount of enzyme produced. Enzymatic assay showed a deficiency in debranching enzyme activity. Glycogen is stored primarily in skeletal muscle and liver as a critical source of energyin skeletal muscle as a fuel for muscle contraction, in liver as a source of glucose for extrahepatic metabolism. This panel may be appropriate for individuals with signs and symptoms of a gsd. 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. Dietary management of the ketogenic glycogen storage diseases. In both tissues, glycogen metabolism is achieved by the.
Glycogen storage diseast type 1a gsd1a is the most common genetically inherited glycogen storage disease. Adult polyglucosan body disease apbd is a neurological, adultonset variant of glycogen storage disease type iv caused by mutations in the glycogen branching enzyme gene. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. Hers and van hoof 1968 suggested that glycogen storage disease type vi was a waiting room from which new entities will be separated in the future. Jan 03, 20 the clinical manifestations of glycogen storage disease type iv gsd iv discussed in this entry span a continuum of different subtypes with variable ages of onset, severity, and clinical features. Glycogen storage disease type iv genetics home reference nih. Glycogen storage disease type iv is autosomal recessive, which means each parent has a mutant copy of the gene but show no symptoms of the disease. Pdf glycogen storage disease type iv due to branching enzyme. Glycogen storage disease due to glycogen branching.
Andersen disease belongs to a group of rare genetic disorders of glycogen metabolism, known as glycogen storage. Glycogenosis due to glucosephosphatase g6p deficiency or glycogen storage disease, gsdtype 1, is a group of inherited metabolic. 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. Recall that glycogen storage disease results from genetic mutations that disrupt the storage and breakdown of glycogen. Glycogen is a highly branched glucose polymer consisting of chains of. It affects 1 in 800,000 individuals worldwide, with 3% of all glycogen storage diseases being type iv. Test invitae comprehensive glycogen storage disease panel. The following general treatment guidelines apply to people who have glycogen storage diseases that affect the liver, or types i, iii, iv, and vi. It is an autosomal recessive disorder in which there is an agl gene mutations which causes deficiency in glycogen debranchinging enzyme and limited storage of dextrin. Kelley wn, rosenbloom fm, seegmiller je, howell rr. No specific symptoms are associated with hers disease glycogen. Glycogen storage disease gsd type iii is caused by deficiency of the enzyme amylo1,6 glucosidase debranching enzyme leading to the storage of an abnormal glycogen with short outer chains called limit dextrinsl. Glycogen storage disease type iii sandeep kapoor p. This is the first reported case of costello syndrome complicated by glycogen storage disease.
Glycogen storage disease glycogen storage disease type iv pdf glycogen storage disease type iv glycogen storage disease. Gsd i causes the inability of the liver to breakdown glycogen to glucose which the body uses as its main source of fuel. Pompe disease glycogen storage disease mnemonic for. This enzyme is required for glycogen synthesis, and is encoded by the gys2 gene on chromosome 12. 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. Identification of therapeutic targets in a glycogen. Glycogen storage disease type 4 genetic and rare diseases. The highest incidence of glycogen storage disease type iii tlucogenosis in the faroe islands where it occurs in 1 out of glucogenosis 3, births, probably due to glucogenosis founder effect. Pompe disease, also called glycogen storage disease type ii gsdii, is an autosomal recessive metabolic disorder that damages muscle and nerve cells throughout the body.
Glycogen storage diseases handbook association for glycogen. Symptoms vary by the glycogen storage disease gsd type and can include muscle. Glycogen storage disease type iii indian pediatrics. Glycogen storage diseases definition of glycogen storage. The activity of the debranchingenzyme system in leucocytes. 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. I was born with it and apparantly spent 2 months in an incubator. A case of costello syndrome and glycogen storage disease type. 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 diseases gsds are a heterogeneous group of inherited disorders caused by inborn errors of glycogen metabolism. Glycogen storage disease type iv, also known as glycogen branching enzyme deficiency, andersens disease or amylopectinosis is a rare inherited metabolic disorder. Glycogen storage disease type 4 gsd 4 is part of a group of disorders which lead to abnormal accumulation of glycogen a storage form of glucose in various parts of the body. Glycogen storage disease type iv is a form of glycogen storage disease, which is caused by an inborn error of metabolism.
Glycogen storage disease type iv genetics home reference. Andersen disease is also known as glycogen storage disease gsd type iv. Glycogen storage disease type 4 gsd 4 is caused by mutations in the gbe1 gene. Gsd type iii is also known as forbescori disease or limit dextrinosis. Recent experience with mutation analysis, a summary of mutations reported in the literature. The main types of glycogen storage diseases in children are categorized by number and name. Recent experience with mutation analysis, a summary of mutations reported in the literature and a newly dev eloped diagnostic. Individuals with gsd1a have a defective gene for the enzyme glucose6phosphatase, resulting in the inability to regulate blood sugar glucose. 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. Definition glycogen serves as the primary fuel reserve for the bodys energy needs.
Its incidence is reported as one in 100,000, roughly the same as glycogen storage disease type i. Unlike other forms of glycogen storage disease, gsd type 0 does not involve the storage of excessive or abnormal glycogen. Glycogen is formed by assembling many molecules of glucose. Mutations in gaa result in gaa enzyme deficiency, which is a lysosomal enzyme. Although at least 14 unique gsds are discussed in the literature, the 4 that cause clinically significant muscle weakness are pompe disease gsd type ii, acid maltase deficiency, cori disease gsd type iii, debranching enzyme deficiency, mcardle disease gsd type v, myophosphorylase deficiency, and tarui disease gsd type vii, phosphofructokinase. The gbe1 gene normally provides instructions for making the glycogen branching enzyme. Glycogen storage disease type 4 pdf dandk organizer. A case of costello syndrome and glycogen storage disease. The pathogenesis of hyperuricemia in glycogen storage disease. Glycogen storage disease gsd management and treatment. Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic disorders that involve the enzymes regulating glycogen metabolism. These disorders most commonly affect the muscle and liver where glycogen is the most abundant. Glycogen storage disease type i genetics home reference. Glycogen storage disease glycogenosis branching enzyme.
Correlation of biochemical defects with myopathy and cardiomyopathy. In humans, gsd is a consequence of inborn errors of metabolism genetically defective enzymes. The genes included and the methods used in multigene panels vary by laboratory and over time. Glycogen storage disease in adults annals of internal. Glycogen storage disease type iv gsd iv, or andersen disease, is an. Pompe disease also termed glycogen storage disease type ii. Dec 23, 2012 glycogen storage disease type 4 gsd 4 is caused by mutations in the gbe1 gene. 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. Glycogen storage disease type 4 an overview sciencedirect. Andersen disease gsd iv nord national organization for. Glycogen storage disease type iv an overview sciencedirect. Glycogen storage disease type iii diagnosis and management. Figure 3 summarizes the enzymic mechanisms which are responsible for glycogen synthesis. Gsd type 4 is due to deficiency of glycogen branching enzyme gbe table 65.
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