Diet is the mainstay of treatment and requires close monitoring and adjustment by a highly specialized. Discussion climcal symptomatology, biochemical and microscopic analysis of liver and muscle biopsy or autopsy materials, permitted precise classification of the present 12 patients with glycogen storage disease into types i a, ii, iii, iv, v, type iii variant of muscle type disease and muscle type phosphorylase b kmase deficiency. Type 1 glycogen storage disease gsd1 is an autosomal recessive disorder that was first described in 1929 by e. The diagnosis is supported by blood sugar concentrations following the administration of monosaccharides and following epinephrine injection as well as by postmortem anatomical and chemical studies. Quizlet flashcards, activities and games help you improve your grades. It is normally broken down into glucose to give you more energy when you need it. On the other hand, the extracted glycogen from type iv disease demonstrated strong amylolysis and it was judged to have an amylopectm like structure. Absence of the src2 coactivator results in a glycogenopathy. Glucose6phosphatase g6pase is an essential, ratelimiting enzyme that serves as a terminal gatekeeper for hepatic glucose release into the plasma. Inborn errors of carbohydrate metabolism knowledge for. 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 still considered the first line of treatment for. The main types of glycogen storage diseases in children are categorized by number and name. Glucose6phosphate levels and liver glycogen disease jama.
Glycogen is stored in the liver and muscles and is normally broken down into glucose when you do not eat. A pdf version is available thanks to the evelina london childrens hospital. 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, iv, vi. New players that control the expression of glucose6phosphatase have been identified that may provide insight into. Molecular diagnosis of glycogen storage disease type i.
Glycogen storage disease type 3 an overview sciencedirect. Diagnosis and management of glycogen storage disease type i. Glycogen storage disease type i is a rare autosomal recessive inherited disorder with an annual incidence of approximately 1100. Almost all of these enzyme defects are inherited in an autosomal recessive fashion.
New players that control the expression of glucose6phosphatase have been identified that. Glycogen storage disease gsd is a rare genetic disorder that affects about one in 20,000 people in the u. There is an enzyme defect in glucose6phosphatase so that glucose6phosphate cannot be converted into free glucose but is metabolised to lactic acid or incorporated into glycogen. Affected newborns are at risk of neonatal hypoglycemia low blood. Glycogen storage disease type 1a genetic and rare diseases. Association for glycogen storage disease genetic and rare. In a hurry, or would like an electronic copy to keep to hand on your tablet or smartphone. Christensen md, in hematology, immunology and infectious disease. Neonatology questions and controversies second edition, 2012. Glycogen storage disease type i gsd i is an inherited disease that results in the liver being unable to properly break down stored glycogen. Pathway the body needs sugar in the form of glucose to function.
Glycogen is a form of sugar glucose that is stored in the liver and muscles. It highlights current practices and therapeutic approaches to the diagnosis and management of gsd i and its early and longterm complications. Pompe disease glycogen storage disease mnemonic for usmle. Photographs were taken after securing a signed informed consent, as registered in the clinical histories of both child patients, to document that exposed. Gsds are caused by the enzyme deficiencies effect on glycogen synthesis, glycogen breakdown or glycolysis glucose breakdown, typically within muscles andor liver cells. The patient may present with hepatomegaly and signs and symptoms of hypoglycemia.
Two patients had almost total deficiency of hepatic g6pase. Media in category glycogen storage disease type i the following 6 files are in this category, out of 6 total. They claimed that children with this disease, and their parents, have. In ordet o get it, it has to be broken down from larger molecules that store it glycogen. During fasting, the normal conversion of triglycerides to free. Longterm complications are usually only seen now in adults whose disease was poorly treated early on. 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. There is no report regarding ethnic difference in the incidence of gsd type i, however there are different types of mutations in caucasian, hispanic, asian and jewish populations ekstein et al. Glycogen storage disease type i an overview sciencedirect. Following removal gierk the phosphate the free glucose is transported out of the er lumen to the cytosol. Glycogen storage diseases are the result of defects in proteins involved in synthesizing or breaking down glycogen in the blood, cells, and tissues chou et al. It was the first gsd to have the responsible enzyme defect identified and therefore is designated gsd i.
Dec 08, 2010 glycogen storage disease type 1 is an inherited disorder caused by the buildup of a complex sugar called glycogen in the bodys cells. Hello guys, this is what wiki says, hypertriglyceridemia resulting from amplified triglyceride production is another indirect effect of impaired gluconeogenesis, amplified by chronically low insulin levels. Nov 28, 2008 hepatic glucose production is critical for basal brain function and survival when dietary glucose is unavailable. Glucose6phosphate levels and liver glycogen disease. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally.
There is hypoglycemia and excess glycogen is stored in liver, kidney causing illness. Patients with type 1 glycogen storage disease can present during the neonatal period with lactic acidosis and hypoglycemia. Hyperuricemia in glycogenstorage disease type 1 jama. Glycogen storage disease type i genetics home reference. These metabolic diseases may be classified into three main groups, affecting the metabolism of glycogen, galactose, and fructose. Morphological data in type ii disease, large numbers of glycogen containing vacuoles, glycogenosomes, were found in the cytoplasm of the liver cells fig. Feb 17, 2009 the enzyme glucose6phosphatase is critical for maintaining fasting blood sugar levels by increasing hepatic glucose production. Jul 12, 2018 pompe disease, also called glycogen storage disease type ii gsdii, is an autosomal recessive metabolic disorder that damages muscle and nerve cells throughout the body. Covering pathophysiology, sign, symptoms, clinical findings as well fgteev im a gurkey turkey feat. Pediatric glycogen storage disease childrens pittsburgh. The severity of the hypoglycemia and lactic acidosis can be such that in the past affected individuals died in infancy. The deficiency impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis.
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