Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic. Glycogen storage disease type i gsd i is a rare disease of variable clinical severity that primarily affects the liver and kidney. Dietary management of the ketogenic glycogen storage. Chapter 5 type ii glycogen storage disease abbreviated gsd ii.
Childrens hospital at montefiorealbert einstein college of medicine, bronx, ny 2. Gsd affects the liver, muscles and other areas of the body. Consensus guidelines for management of glycogen storage disease type 1b. Glycogen storage disease type iii gsdiii is an autosomal recessive disorder caused by a deficiency of glycogen debranching enzyme activity, leading to the accumulation of glycogen in the liver and muscle. The invitae comprehensive glycogen storage disease panel analyzes 25 genes associated with various glycogen storage diseases gsds. In teenagers and adults, glycogen storage disorders usually cause tiredness fatigue, feeling weak when exercising, or the feeling of aching and weak muscles. Glycogen storage disease type i nord national organization for. Molecular diagnosis of glycogen storage disease type i. Glycogen storage disease type iii nord gratefully acknowledges terry g. 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. The classic infantileonset starts before 12 month of age and involves the heart muscle myocardiopathy.
Overall, according to a study in british columbia, approximately 2. Jan 30, 2019 glycogen storage disease type i gsd i is a relatively rare metabolic disease with variable clinical intensity. A genetic study of glycogen storage disease type 3. Individuals with gsd1a have a defective gene for the enzyme glucose6phosphatase, resulting in the inability to regulate blood sugar glucose. These disorders most commonly affect the muscle and liver where glycogen is the most abundant. 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. This causes the buildup of abnormal amounts and types of glycogen in liver andor muscle tissues. Glycogen storage diseases gsds are a heterogeneous group of inherited disorders caused by inborn errors of glycogen metabolism. The main types of glycogen storage diseases in children are categorized by number and name. A case of costello syndrome and glycogen storage disease type. Claude bernard first isolated glycogen from the liver in 1857 anddescribed its chemical andphysio. Study on glycogen storage disease isgsdiii is a descriptive retrospective, international, multicentre cohort study of diagnosis, genotype, management, clinical course and outcome of 175 patients from 147 families 86 % gsdiiia.
People with gsd have trouble synthesizing and breaking down glucose, which can. Claude bernard first isolated glycogen from the liver in 1857 anddescribed its chemical andphysiological properties. Glycogen storage disease type i gsdi is characterized by accumulation of. Glycogen storage diseast type 1a gsd1a is the most common genetically inherited glycogen storage disease. Glycogen storage disease type vii or taruis disease. Summary to study longterm outcome in glycogen storage disease type i gsd i, data of adult patients obtained from the european study on gsd i esgsd i were elaborated. This panel may be appropriate for individuals with signs and. We report a 6 year old boy with costello syndrome and glycogen storage disease type iii.
In total 58 agl mutations nonmissense mutations were. Type i glycogen storage disease is associated with abnormalities in two genes. A rendering of the human muscular form of phosphofructokinase. A lack of glycogen breakdown interferes with the function of muscle cells.
Test invitae comprehensive glycogen storage disease panel. Definition glycogen serves as the primary fuel reserve for the bodys energy needs. Derks, md, phd, and irene hoogeveen, mdphdstudent, section of metabolic diseases, beatrix childrens hospital, university. 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. Lateonset glycogen storage disease type 2 request pdf. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Glycogen storage disease type 2 pdf dandk organizer. Correlation of biochemical defects with myopathy and cardiomyopathy. 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. In humans, gsd is a consequence of inborn errors of metabolism genetically defective enzymes. 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. Individuals should consult with their physician regarding specific dietary guidelines. It is caused by the deficiency of glucose6phosphatase, an enzyme which.
A case of costello syndrome and glycogen storage disease. Pdf prior to 2006 therapy for glycogen storage diseases consisted primarily of dietary. The following is a list of common glycogen storage disease. Diagnosis and management of glycogen storage disease type. Type iv gsds with progressive liver disease may have to be considered for liver transplantation after a thorough evaluation. Glycogen storage disease type 2 genetic and rare diseases nih. Mutations in the production of this enzyme are the cause of taruis disease. Online mendelian inheritance in man omim demo e, frush d, gottfried m, et al.
Glycogen storage disease type ii in spanish patients. Glycogen storage disease due to acid maltase deficiency. Some glycogen storage disorders, particularly type ib, can affect your immune system and make you more susceptible to infections. It is caused by deficient activity of the glucose 6phosphatase enzyme gsd ia or a.
Glycogen storage disease type i nord national organization. The activity of the debranchingenzyme system in leucocytes. Gsd i causes the inability of the liver to breakdown. 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. Enzymatic assay showed a deficiency in debranching enzyme activity. Type i glycogen storage disease is inherited as an autosomal recessive genetic disorder. Glycogen storage disease type 2 an overview sciencedirect. Clinical guidelines for lateonset pompe disease orphanet.
Glycogen storage disease type 2 pompe disease orphanet. Glycogen storage disease type 3 an overview sciencedirect. Type ii glycogen storage disease gsd, also known as pompe disease, is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid. It is an inherited disorder that affects the metabolism the way the body breaks food down into energy. The objective of this study was to describe a large italian cohort of patients with lateonset glycogen storage disease type 2 gsdii at various stages of disease progression and to evaluate the.
The glycogen storage disorders american academy of. Guidelines for the diagnosis of pompe disease have been published by an expert panel. Glycogen storage diseases handbook association for glycogen. Diagnosis and management of glycogen storage disease type i. Glycogen storage disease type iiihepatocellular carcinoma a longterm complication. Glycogen storage disease gsd is a rare genetic disorder that affects about one in 20,000 people in the u. Figure 3 summarizes the enzymic mechanisms which are responsible for glycogen synthesis.
In a person with a glycogen storage diseases, some of these enzymes are defective, deficient, or absent. This panel may be appropriate for individuals with signs and symptoms of a gsd. Excessive production of uric acid in type i glycogen storage disease. Additionally, this panel may be appropriate for those in whom a gsd is suspected due to abnormal laboratory values, muscle or liver. Pediatric glycogen storage disease childrens pittsburgh.
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. 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. Incidence is estimated at 1 in 50,000 in most populations, implying a carrier frequency of 1 in 100 kleijer et al. Glycogen storage disease type ii, also called pompe disease, is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. The glycogen storage disorders american academy of pediatrics. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alphaglucosidase enzyme. From hospital records of 16 metabolic centres, in 12 european countries, 60 gsd.
Gsd2 is characterised by lysosomal accumulation of glycogen in many body tissues as opposed to the exclusive cytoplasmic accumulation of glycogen that occurs in most other glycogen storage disorders. 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 veal. Consequently, its loss leads to glycogen accumulation, primarily in the liver. Glycogen storage disease type iii glycogen debranching enzyme deficiency. Visser g, rake jp, labrune p et al 2002 consensus guidelines for. Glycogen storage disease in adults annals of internal. He had a hypoglycaemic attack which caused generalised convulsions at the age of 3 years. Glycogen storage disease type i gsdi is a genetic metabolic disorder of the liver. It is caused by deficient activity of the glucose 6phosphatase. Jan 08, 2019 glycogen storage disease gsd is a rare genetic disorder that affects about one in 20,000 people in the u. It is caused by deficient activity of the glucose 6phosphatase enzyme gsd ia or a deficiency in the microsomal transport proteins for glucose 6phosphate gsd ib. Glycogen storage disease type vii genetics home reference nih. It is caused by deficient activity of the glucose 6phosphatase enzyme gsd ia or. Pompe disease is an autosomal recessive lysosomal storage disease that results from deficiency of acid maltase, coded by the gaa gene, which is localized to chromosome 17q25.
Table i summarizesthe types ofglycogen storage disease that are now recognized and the main tissues affected. Glycogen storage disease type i gsd i is a relatively rare metabolic disease with variable clinical intensity. The disease is due to the deficiency of glucose6phosphatase for which glycogen cannot be broken down to liberate glucose and glucose6phosphate promotes glycogen synthesis. Glycogen storage disease gsd is a rare condition that changes the way the body uses and stores glycogen, a form of sugar or glucose.
Alittle over 70 years later, two forms ofglycogen storage disease wererecognized. Pompe disease is a single disease continuum occurring at any age with remarkable phenotypic variation, as well as variable rates of progression and extent of organ. General nutrition guidelines for glycogen storage disease type i glycogen storage disease type i gsdi is a genetic metabolic disorder of the liver. 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. Jun 01, 2018 glycogen storage disease type 2, also known as pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder. The glycogen thus stored serves as a reservoir for glucose when the. Gsd i causes the inability of the liver to breakdown glycogen to glucose which the body uses as its main source of fuel. Dietary management of the ketogenic glycogen storage diseases. This is the first reported case of costello syndrome complicated by glycogen storage disease. Glycogen storage disease type 2, sometimes also referred to as pompe disease, is a genetic disorder inherited as an autosomal recessive trait.
Glycogenosis ii gsdii is an autosomal recessive lysosomal storage disorder resulting from acid alphaglucosidase gaa deficiency, subsequent lysosomal accumulation of glycogen in muscles, impairment of autophagic processes and progressive cardiac, motor and respiratory failure. Glycogen storage disease type i genetics home reference. Glycogen storage disease type 2 gsd2 pompe disease. A number of diseases are associated with abnormal glycogen metabolism including type 2 diabetes t2d and glycogen storage diseases gsds 15,16, 17. Since glycogen storage diseases are hereditary, the primary risk factor for is having a family member with this disease. Glycogen storage disease gsd management and treatment. Hepatic mitochondrial dysfunction is a feature of glycogen. Individuals with gsd1a have a defective gene for the enzyme glucose6phosphatase. Derks, md, phd, and irene hoogeveen, mdphdstudent, section of metabolic diseases, beatrix childrens hospital, university medical center groningen, university of groningen, groningen, the netherlands, and matthew kruchten, nord editorial intern from the university of. Glycogen storage disease type 2, also known as pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder.
They are differentiated by their signs and symptoms and the age at which symptoms. Study on glycogen storage disease isgsdiii is a descriptive retrospective, international, multicentre cohort study of diagnosis, genotype, management, clinical course and outcome of 175 patients from. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for glycogen storage disease. 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. Recent experience with mutation analysis, a summary of mutations reported in the literature and a newly dev eloped diagnostic. Glycogen storage diseases definition of glycogen storage. Kelley wn, rosenbloom fm, seegmiller je, howell rr. It is caused by deficient activity of the glucose 6phosphatase enzyme gsd ia or a deficiency in the microsomal transport proteins. Gsd2 is characterised by lysosomal accumulation of glycogen in many body tissues as opposed to 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. Pompe disease is a single disease continuum occurring at any age with remarkable phenotypic variation, as well as variable rates of progression and extent of organ involvement. Is type 2 diabetes a glycogen storage disease of pancreatic. Lateonset glycogen storage disease type 2 gsd2 pompe disease is a progressive multisystem disease characterized by respiratory and skeletal muscle weakness and atrophy, resulting in functional disability and reduced life span. Glycogen storage disease type 2 genetic and rare diseases. Aug 22, 2017 in teenagers and adults, glycogen storage disorders usually cause tiredness fatigue, feeling weak when exercising, or the feeling of aching and weak muscles. Glycogen storage disease type ii has a broad continuous clinical spectrum in. Online mendelian inheritance in man omim glycogen storage disease iii, gsd3. Glycogen storage disease type iii gsdiii is an autosomal recessive disorder caused by a deficiency of glycogen debranching enzyme activity, leading to the accumulation.