Glycogen storage diseases are caused by a defect in a gene that is inherited from both parents and causes the excessive buildup of glycogen in the tissues. Glycogen storage diseases symptoms, diagnosis, treatments. Glycogen storage disorders the brain, red blood cells, and inner portion of the adrenal gland adrenal medulla depend on a constant supply of glucose for their metabolic functions. Diagnosis and management of glycogen storage disease type. Lei kj, shelly ll, lin b, sidbury jb, chen yt, nordlie rc, chou jy. Test invitae comprehensive glycogen storage disease panel. Glycogen storage disease gsd is a rare genetic disorder that affects about one in 20,000 people in the u. 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. Glycogen is the storage form of glucose and is present in multiple tissues, but. The chart showing pdf series, html series, scan qr codes html series. The accumulation of glycogen in certain organs and. Glycogen metabolism and glycogen storage disorders. Metabolic disease disorders of carbohydrate metabolism. The glycogen storage diseases gsds are a group of inherited metabolic disorders that result.
Glycogen storage disease gsd is a rare condition that changes the way the body uses and stores glycogen, a form of sugar or glucose. These diseases are named for the specific enzyme deficiency that occurs in the. People with gsd have trouble synthesizing and breaking down glucose, which can cause a. Glycogen storage diseases gsds are a heterogeneous group of inherited disorders caused by inborn errors of glycogen metabolism. In some of the glycogen storage diseases but not all maintaining the blood glucose levels is a very central and major problem. Glycogen storage diseases gsd s comprise a constellation of disorders involving the disruption of glycogen metabolism. 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. Glycogen storage diseases gsds are a group of rare inherited metabolic disorders incidence from 1 in 20, 000 to 1 in 100, 000 newborns characterized by abnormal storage or degradation of. Pdf glycogen storage disorders are a group of inborn errors of metabolism characterized by accumulation of glycogen in various tissues. Glycogen storage disease gsd is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. Table i summarizesthe types ofglycogen storage disease that are now recognized and the main tissues affected.
Glycogen storage disorders are a group of inherited diseases. Glycogen storage diseases step ofglycogen synthesis properis theformation of uridine diphosphoglucose udpgfrom glucose 1phosphate. Granulocyte colonystimulating factor in glycogen storage disease type 1b. They result from a problem with one of the proteins known as enzymes involved in the conversion of glucose to glycogen, or the.
Glycogen storage diseases diagnosis ppt carbohydrate chemistry powerpoint glycogen storage diseases diagnosis. Glycogen storage disorders ppt slideshare dandk organizer. Management of liver glycogen storage diseases gsds primarily involves maintaining normoglycemia through dietary modifications and regular glucose monitoring. This reaction is reversible, but the next step is the irreversible. The glycogen storage diseases and related disorders. Glycogen storage disease an overview sciencedirect topics. 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. The types may be divided loosely into those where the enzymic lesion, and hence the. Pediatric glycogen storage disease childrens pittsburgh. The following points highlight the top ten types of glycogen storage diseases. The glycogen storage disorders american academy of pediatrics. Although abnormal glycogen storage is a hallmark, there is a large spectrum of phenotypes associated with these disorders, with the age of onset ranging from in utero to adulthood. The types and severity of symptoms of glycogen storage diseases vary between individuals and differ based on the specific type of glycogen storage. Although multiple types of glycogen storage disease exist, glycogen storage disease type 1a gsd 1a is one of the most severe glycogen storage disorders.
Childrens hospital at montefiorealbert einstein college of medicine, bronx, ny 2. Glycogen storage disease type 1 is an inherited disorder caused by the buildup of a complex sugar called glycogen in the bodys cells. Glycogen storage diseases definition of glycogen storage. Glycogen storage disease type v omim 232600 is a pure myopathic form of gsd affecting skeletal muscle. The glycogen storage disorders american academy of. The abnormal accumulation of glycogen within the cytoplasm of cells is called glycogen infiltration. Glycogen storage diseases handbook association for glycogen. Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic. Mutations in the glucose6phosphatase gene are associated with glycogen storage diseases types 1a and 1asp but. Glycogen storage disease iii forbes disease is a deficiency of amylo1,6.
Glycogen storage diseases journal of clinical pathology. There are a number of inborn errors of glycogen metabolism that result from mutations in genes for virtually all of the proteins involved in glycogen synthesis, degradation, or regulation. Often, infants born with gsd iv are diagnosed with enlarged livers and failure to thrive. The liver glycogen storage disorders gsds comprise gsd i, the hepatic presentations of gsd iii, gsd iv, gsd vi, the liver forms of gsd ix, and gsd 0. There are many numbered and named types, all of which are caused by deficiencies of enzymes involved in glycogen synthesis or. General nutrition guidelines for glycogen storage disease type i glycogen storage disease type i gsdi is a genetic metabolic disorder of the liver. Glycogen storage disease i is an indication for liver transplant and does not appear to recur in patients with transplants 4548. Biochemical and clinical aspects of glycogen storage diseases. Dietary management of the ketogenic glycogen storage diseases. Glycogen storage diseases gsd are inherited metabolic disorders of. Children with glycogen storage diseases have a buildup of abnormal. They are subdivided on the basis of the specific deficiency into types designated o. Ppt glycogen storage disease glycogen storage disorders authorstream ppt glycogen storage diseases glycogen storage disease.
Glycogen storage diseases gsds are a group of inherited genetic disorders that cause glycogen to be improperly stored in the body. Results of the european study on glycogen storage disease type 1. Definition glycogen serves as the primary fuel reserve for the bodys energy needs. Glycogen storage diseases are carbohydrate metabolism disorders. Role of continuous glucose monitoring in the management of.