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. The possible development of hepatocellular carcinoma andor hepatic failure make these gsds potential. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Deficiency of the catalytic subunit of the g6pase enzyme system is responsible for type ia glycogen storage disease. Glycogen storage disease gsd is a rare condition that changes the way the body uses and stores glycogen, a form of sugar. 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. Type ii pompes disease muscles, heart, liver, nervous system, blood vessels. Glycogen storage disease, any of a group of enzymatic deficiencies resulting in altered glycogen metabolism. 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.
We report a 15monthold female patient with gsdiv who. Glucose6phosphate gets converted to glucose1phosphate. The patientparent handbook glycogen storage disease. This dephosphorylation reaction produces free glucose and free po 4 anions. Bone mineral density in children, adolescents and adults with glycogen storage disease type ia.
They are subdivided on the basis of the specific deficiency into types designated o. This enzyme is composed of two independent catalytic subunits on one polypeptide chain, oligo1,41,4 glucantransferase and amylo1,6glucosidase. Proximal tubular dysfunction glucosuria, phosphaturia, potassium wasting, and generalised aminoaciduria is reversible when biochemical control of the disease improves. Gene therapy for glycogen storage diseases human molecular. A patientparent handbook 3 chapter 1 the biochemistry of glycogen storage disease the underlying problem in all of the glycogen storage diseases is the use and storage of. Glycogen storage disease gsd types vi and ix are rare diseases of variable clinical severity affecting primarily the liver. Glycogen storage disease type i gsd i is a rare disease of variable clinical severity that primarily affects the liver and kidney. Childrens hospital at montefiorealbert einstein college of medicine, bronx, ny 2. 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 within muscles andor liver cells. Several types of glycogen storage diseases have been described that are caused by different genetic changes and whose clinical expression is diverse, with. You are advised to consult the publishers version publishers pdf if.
For most gsds, each parent must pass on one abnormal copy of the same gene. It rests on the most basic, most precise, and least overlapping parameter known at the present time. 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. Gsd vi is caused by deficient activity of hepatic glycogen. 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. Glycogen storage disease iii forbes disease is a deficiency of amylo1,6glucosidase glycogen debranching enzyme, which leads to glycogen accumulation and decreased glucose release. A patientparent handbook 3 chapter 1 the biochemistry of glycogen storage disease the underlying problem in all of the glycogen storage diseases is the use. Diagnosis and management of glycogen storage disease type. Definition glycogen serves as the primary fuel reserve for the bodys energy needs. Gsd i causes the inability of the liver to breakdown.
Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic disorders that involve the enzymes regulating glycogen metabolism. Glycogen storage disease gsd is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. The types may be divided loosely into those where the enzymic lesion, and hence the. Gsd type v, also known as mcardle disease, affects the skeletal muscles. Insulin commands your cells to store any excess glucose as glycogen. 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.
Different glycogen storage diseases presenting as abdominal. Jun 01, 2018 glycogen storage disease type 2, also known as pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder. A gene on chromosome 11q23 coding for a putative glucose6phosphate translocase is mutated in glycogenstorage disease types ib and ic. Glycogen storage disease type iii cori disease or forbes disease omim 232400 was initially discovered in 1952 when a patient being followed by dr. Sometimes gsds are also referred to as glycogenoses because they are caused by difficulty in glycogen metabolism. Onset is generally apparent in the first month of life with symptoms of hypotonia, systemic muscle weakness, cardiomegaly and hypertrophic cardiomyopathy, feeding difficulties. Glycogen storage diseases handbook association for glycogen. Glycogen storage disease type iii gsd type iii is an autosomal recessive condition due to deficiency of the glycogen debranching enzyme. Glycogen storage diseases definition of glycogen storage. Triglyceride clearing in glycogen storage disease pediatric. Typical symptoms include low blood sugar, muscle cramps, slow growth, and enlarged liver.
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, types ii, iii, viii, and ix. Table i summarizesthe types ofglycogen storage disease that are now recognized and the main tissues affected. Pdf glycogen storage disorders are a group of inborn errors of metabolism.
Glycogen storage disease type 0 genetics home reference nih. 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. 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. It affects 1 in 800,000 individuals worldwide, with 3% of all glycogen storage diseases being type iv.
Glycogen storage disease type 1a genetic and rare diseases. Glycogen storage disease an overview sciencedirect topics. It is an autosomal recessive disorder in which there is a deficiency of glycogen. They result from a problem with one of the proteins known as enzymes involved in the conversion of glucose to glycogen, or the. This enzyme is composed of two independent catalytic subunits on.
Glycogen storage disease gsd glucose is a large energy source for the body. 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. While some forms of gsd affect a single tissue type for example, skeletal muscle in mcardle disease, others affect multiple systems. Liver transplantation for type i and type iv glycogen storage.
It is passed down from parents to children inherited. Glycogen storage disease type 2 genetic and rare diseases. 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. 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. Aug 22, 2017 glycogen storage disorders are a group of inherited diseases.
The doses can be titrated based on the results of glucose and ketone monitoring. It is an autosomal recessive disorder in which there is a deficiency of glycogen phosphorylase. 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. The severity of this disease varies on the amount of enzyme produced. Pdf liver transplantation for glycogen storage disease. The possible development of hepatocellular carcinoma andor hepatic failure make these gsds potential candidates for liver transplantation. The overaccumulation of glycogen appears as a hallmark in various glycogen storage diseases gsds, including pompe, cori, andersen and lafora disease.
Disturbed sphingolipid metabolism with elevated 1deoxysphingolipids in glycogen storage disease type i a link to metabolic control thorsten hornemann, irina alecu. Glycogen storage disease type ii gsd ii, or pompe disease, is primarily classified by the age of onset, rate of progression severity, and the organ involvement. It is stored by the body in the form of glycogen and released into the blood as needed with the help of special proteins called enzymes. Glycogen storage disease gsd is a rare genetic disorder that affects about one in 20,000 people in the u.
The natural history of glycogen storage disease types vi and ix. Glycogen storage disease type i genetics home reference. 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. Glycogen storage disease in adults annals of internal medicine. 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. Glycogen storage disease type 1 is an inherited disorder caused by the buildup of a complex sugar called glycogen in the bodys cells. Type i glycogen storage disease gsd i is the commonest most. Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic. Glycogen storage disease type 3 an overview sciencedirect.
Longterm outcome from the largest metabolic center in canada. These enzyme defects lead to abnormal tissue concentrations of glycogen or structurally abnormal forms of glycogen. Glycogen storage disease type iv gsdiv, also known as andersen disease or amylopectinosis mim 23250, is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme gbe leading to the accumulation of amylopectinlike structures in affected tissues. Prior to 2006 therapy for glycogen storage diseases consisted primarily of dietary interventions, which in the case of glycogen storage disease gsd type ii gsd ii. 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 disorders are a group of inherited diseases. Glycogen storage disease type iv is autosomal recessive, which means each parent has a mutant copy of the gene but show no. Cori divided the syndrome of glycogen storage disease into various types according to the enzymatic deficiency involved. It is caused by deficient activity of the glucose 6phosphatase enzyme gsd ia or a deficiency in the microsomal transport proteins. Glycogen storage disease type iv gsdiv, also known as andersen disease or amylopectinosis mim 23250, is a rare autosomal recessive disorder caused by a deficiency of glycogen branching. Alittle over 70 years later, two forms ofglycogen storage disease.
Glycogen storage disease types pdf dandk organizer. Jun 22, 2019 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 main types of glycogen storage diseases in children are categorized by number and name. Pediatric glycogen storage disease childrens pittsburgh. Claude bernard first isolated glycogen from the liver in 1857 anddescribed its chemical andphysiological properties. General nutrition guidelines for glycogen storage disease type i glycogen storage disease type i gsdi is a genetic metabolic disorder of the liver. Gilbert forbes was found to have excessive amounts of abnormally structured glycogen in liver and muscle tissue. The types and severity of symptoms of glycogen storage diseases vary between individuals and differ based on the specific type of glycogen storage disease. The accumulation of glycogen in certain organs and. Symptoms vary by the glycogen storage disease gsd type and can include muscle. Glycogen storage diseases symptoms, diagnosis, treatments and. Re sults of the european study on glycogen storage disease t ype i. Glycogen storage diseases journal of clinical pathology.
Proximal tubular dysfunction glucosuria, phosphaturia, potassium wasting, and generalised aminoaciduria is reversible when biochemical control of the. Glycogen storage disease type iv gsdiv is a rare autosomal recessive disease caused by deficient glycogen branching enzyme gbe. Glycogen storage disease glycogen storage diseases priya kishnani glycogen storage disease gsd. 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. Glycogen storage disease gsd types i, iii, and iv can be associated with severe liver disease. The variable presentations of glycogen storage disease type. However, tlpo diagnosis and treatment glucogenosie improved prognosis. Jan 19, 2019 glycogen storage disease gsd types vi and ix are rare diseases of variable clinical severity affecting primarily the liver. University of groningen glycogen storage disease type i rake. The glycogen storage disorders american academy of pediatrics.
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