Glycogen storage disease types pdf dandk organizer. Demonstration of the presence of an immunoreactive protein in one case of muscle phosphorylase deficiency. Dietary management of the ketogenic glycogen storage diseases. In liver glycogen storage diseases gsds, an individual is prone to hypoglycaemia, or low levels of glucose in the blood. Pdf pompe disease, a glycogen storage most notably in skeletal muscle disease type ii is. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for glycogen storage disease 8. 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 diseases symptoms, diagnosis, treatments. Glycogen storage disease type iii gsdiii is an autosomal recessive disorder caused by a deficiency of glycogen debranching enzyme activity, leading to the accumulation. Glycogen storage disease gsd the underlying problem in all of the glycogen storage diseases is the use and storage of glycogen.
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 disorders are a group of inherited diseases. A thermodynamic function of glycogen in brain and muscle. See table in the pdf file must be present in all tissues. Medical nutrition therapy diet glycogen storage disease 1. Pdf background frequent feeds with carbohydraterich meals or. Glycogen storage disease, modified atkins diet mad, ketone bodies, hyperinsulinism.
Some enzyme defects cause glycogen storage in the liver due to the fact that the deficient enzyme is mainly localized. Nih does not independently verify information submitted to the gtr. Theglycogen storage diseases 109 typeanddefect mainsymptoms localized i massive hepatomegaly, severe hypoglycaemia, acidosis, t serum lipids, serumlactate and vongierkeglucose6phosphatase. This is a test of hepatic glycogenolysis, and when only the muscles are affected by the disease, as in type v, a normal result will be obtained. 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. People with gsd have trouble synthesizing and breaking down glucose, which can. Introduction glycogen is a branchedchain polymer of. 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 saddam ansari tbilisi state medical university 4th may 2011 2. From the glycogen storage diseases gsds, congenital disorders arising from mutations in enzymes controlling glycogen.
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. Classification and diagnosis of the glycogen storage diseases. Enzyme replacement therapy for lysosomal storage disorders. Glycogen storage diseases gsds are a heterogeneous group of inherited disorders caused by inborn errors of glycogen metabolism. Glycogen storage diseases are inherited disorders of carbohydrate metabolism. When the body needs more energy, certain proteins called enzymes break down glycogen into glucose. For types of gsd that involve the liver, treatment is aimed at keeping the right level of glucose in the blood. Glycogen storage disease glycogen storage diseases priya kishnani glycogen storage disease gsd glycogen storage disease. Symptoms of glycogen storage disease type viii can include muscle weakness. Gsd affects the liver, muscles and other areas of the body. Pediatric glycogen storage disease childrens pittsburgh. Glycogen storage disease type iii associated with ventricular tachycardia. Glycogen storage disease diagnosis usually occurs in infancy or childhood as a result of the above symptoms.
Glycogen storage disease an overview sciencedirect topics. 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. Lysosomal storage disorders lsd comprise a group of inherited metabolic diseases imd that occur secondary to genetic. Glycogen storage diseases are caused by deficiencies of enzymes that regulate the synthesis of degradation of.
Symptoms can include muscle cramps and fatigue with exercise. Glycogen storage disease iii forbes disease is a deficiency of amylo1,6. Gene testing to look for problems with the genes for different enzymes. Glycogen storage disease type 2, also known as pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder.
Glycogen storage diseases gsd are caused by enzyme defects of glycogen degradation. Immunological studies on glycogen storage diseases type 3 and v. Biochemical and clinical aspects of glycogen storage diseases. Get a printable copy pdf file of the complete article 3. Glycogen storage diseases handbook association for glycogen. 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. Nigms collection glycogen storage diseases pathway.
Choc childrens offers the only dedicated and multidisciplinary program in california for the treatment of glycogen storage disease gsd, a rare condition that. Often, infants born with gsd iv are diagnosed with enlarged livers and failure to thrive. Glycogen storage disease glycogen storage diseases are the result of deficiency of enzymes that cause the alteration of glycogen metabolism. Glycogen storage disease 8 genetic and rare diseases. Glycogen storage disease glycogen storage disease glycogen storage disease glycogen storage disease type i. Claude bernard first isolated glycogen from the liver in 1857 anddescribed its chemical andphysio. 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. Glycogen storage disease in adults annals of internal. Glycogen storage disease i is an indication for liver transplant and does not appear to recur in patients with transplants 4548. Echocardiographic manifestations of glycogen storage disease iii. The centre for arab genomic studies work group 2006 conducted a retrospective study for metabolic disorders described at alwasl hospital in dubai between 1997 and 2006. They result from a problem with one of the proteins known as enzymes involved in the conversion of glucose to glycogen, or the. Sometimes gsds are also referred to as glycogenoses because they are. The glycogen storage diseases gsds are a group of inherited inborn errors of metabolism resulting from.
Glycogen is a branched polysaccharide consisting of glucose units found primarily in animals, fungi and bacteria adevaandany et al. Glycogen storage disease gsd is a rare genetic disorder that affects about one in 20,000 people in the u. Glycogen storage disease program choc childrens, orange. The glycogen storage diseases gsds are a group of inherited metabolic disorders that result from a defect in any one of several enzymes. The glycogen thus stored serves as a reservoir for glucose when the bodys. Glycogen storage diseases type v and vii affect the muscles. 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 gsd management and treatment.
This is often enough to maintain the cells fuel needs and prevent longterm complications associated with poorly controlled gsd. The following points highlight the top ten types of glycogen storage diseases. 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 type i genetics home reference. Over a century of research on this macromolecule has led to many accomplishments. Five had glycogen storage disease type 1a, one type 1e, two type ix, and in two. Gsd iii results from deficient glycogen debrancher enzyme activity, which has two independent catalytic activities. The worlds first gene therapy clinical trial for glycogen storage disease gsd type ia is expected to start this year, hosted by the gsd program at connecticut childrens medical. Glycogen storage disease, any of a group of enzymatic deficiencies resulting in altered glycogen metabolism. They are subdivided on the basis of the specific deficiency into types designated o. Glycogen concentrations vary considerably across cell types, being highest in liver, brain and skeletal muscle, and much lower in smooth muscle and other tissues. It is possible that those patients in group vi who exhibit a diminished level of liver phosphorylase activity might be classified as a separate. General nutrition guidelines for glycogen storage disease type i glycogen storage disease type i gsdi is a genetic metabolic disorder of the liver. We present the clinical, biochemical and histological features of 10 patients first diagnosed in adult life.
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