Definition glycogen serves as the primary fuel reserve for the bodys energy needs. Metabolic disease disorders of carbohydrate metabolism. Children with glycogen storage diseases have a buildup of abnormal. Glycogen storage disease iii forbes disease is a deficiency of amylo1,6. Glycogen storage diseases gsd are inherited metabolic disorders of. 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. Glycogen storage diseases msd manual professional edition. 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. 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. Lei kj, shelly ll, lin b, sidbury jb, chen yt, nordlie rc, chou jy. Glycogen storage disease, any of a group of enzymatic deficiencies resulting in altered glycogen metabolism. Ppt glycogen storage disease glycogen storage disorders authorstream ppt glycogen storage diseases glycogen storage disease. Granulocyte colonystimulating factor in glycogen storage disease type 1b.
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. Glycogen storage disease type v omim 232600 is a pure myopathic form of gsd affecting skeletal muscle. In some of the glycogen storage diseases but not all maintaining the blood glucose levels is a very central and major problem. 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. Glycogen storage disease type i genetics home reference. Management of liver glycogen storage diseases gsds primarily involves maintaining normoglycemia through dietary modifications and regular glucose monitoring. The following points highlight the top ten types of glycogen storage diseases.
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 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 metabolism and glycogen storage disorders. The glycogen storage diseases are disorders of glycogen metabolism in which an excessive amountof glycogen accumulates in several tissues. General nutrition guidelines for glycogen storage disease type i glycogen storage disease type i gsdi is a genetic metabolic disorder of the liver.
People with gsd have trouble synthesizing and breaking down glucose, which can cause a. The glycogen storage diseases gsds are a group of inherited metabolic disorders that result. Glycogen storage diseases symptoms, diagnosis, treatments. The abnormal accumulation of glycogen within the cytoplasm of cells is called glycogen infiltration. Glycogen storage disease an overview sciencedirect topics. Often, infants born with gsd iv are diagnosed with enlarged livers and failure to thrive. The types and severity of symptoms of glycogen storage diseases vary between individuals and differ based on the specific type of glycogen storage. Glycogen storage disease i is an indication for liver transplant and does not appear to recur in patients with transplants 4548. Glycogen storage diseases gsds are a heterogeneous group of inherited disorders caused by inborn errors of glycogen metabolism. Gsd i causes the inability of the liver to breakdown. Role of continuous glucose monitoring in the management of. 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 definition of glycogen storage. Glycogen storage disease gsd is a rare genetic disorder that affects about one in 20,000 people in the u. These diseases are named for the specific enzyme deficiency that occurs in the. Test invitae comprehensive glycogen storage disease panel. Glycogen storage diseases gsd s comprise a constellation of disorders involving the disruption of glycogen metabolism. A glycogen storage disease gsd, also glycogenosis and dextrinosis is a metabolic disorder. Glycogen storage diseases gsds are a group of inherited genetic disorders that cause glycogen to be improperly stored in the body. Glycogen storage diseases handbook association for glycogen. They result from a problem with one of the proteins known as enzymes involved in the conversion of glucose to glycogen, or the. The accumulation of glycogen in certain organs and. 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.
Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic. Although multiple types of glycogen storage disease exist, glycogen storage disease type 1a gsd 1a is one of the most severe glycogen storage disorders. 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. Glycogen storage disorders are a group of inherited diseases. Childrens hospital at montefiorealbert einstein college of medicine, bronx, ny 2. Table i summarizesthe types ofglycogen storage disease that are now recognized and the main tissues affected. Glycogen storage diseases journal of clinical pathology. The chart showing pdf series, html series, scan qr codes html series. 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. The glycogen storage diseases and related disorders.
The glycogen storage disorders american academy of pediatrics. This reaction is reversible, but the next step is the irreversible. Glycogen storage disorders ppt slideshare dandk organizer. 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. Dietary management of the ketogenic glycogen storage diseases. The glycogen storage disorders american academy of.
Biochemical and clinical aspects of glycogen storage diseases. Diagnosis and management of glycogen storage disease type. They are subdivided on the basis of the specific deficiency into types designated o. Mutations in the glucose6phosphatase gene are associated with glycogen storage diseases types 1a and 1asp but.963 79 135 109 1241 126 1431 555 1122 970 1406 1459 1247 224 211 307 40 939 1498 1424 676 172 1036 8 607 1216 142 792 401 594 774 271 1186 55 380 950 1304 221 60 966 494 198 1185 1121 1489 1303 341