Storage Disease, Glycogen
Medical Dictionary
Definition of medical terminology for Storage Disease, Glycogen.
Lipid storage diseases: A series of disorders due to inborn errors in lipid metabolism resulting in the abnormal accumulation of lipids in the wrong places (Examples include Gaucher, ...
Lipid storage diseases are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various tissues and cells in the body.
Glycogen storage disease type 2 (GSD II) is a lysosomal storage disease which particularly affects the skeletal and respiratory muscles with varying degrees of gravity and which, in the infantile form, is associated with hypertrophic cardiomyopathy.
Glycogen Storage Disease Type I Causes, Symptoms And Treatment And Related Disorders
Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy for the body.
Glycogen storage disease type V
Related Gene(s)
References
Quick links to this topic MedlinePlus Health information Genetic and Rare Diseases Information Center Information about genetic conditions and rare diseases Educational ...
Glycogen storage diseases (GSDs) are a group of inherited genetic disorders. They cause glycogen to be improperly formed or released in the body. This results in a build up of abnormal amounts or types of glycogen in tissues.
Glycogen Storage Diseases
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Glycogen Storage Diseases
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Cholesteryl ester storage disease (CESD) is a rare genetic disorder characterized by subtotal defect of an enzyme known as lysosomal acid lipase (LIPA or LAL).
A hepatic glycogen storage disease in which there is an apparent deficiency of hepatic phosphorylase activity.
Alternate Names : Glycogen storage disease type V (GSDV), Myophosphorylase deficiency, Muscle glycogen phosphorylase deficiency, PGYM deficiency
Definition ...
storage disease
strd dziz noun a disease in which unusual amounts of a substance accumulate in a part of the body
stovein chest ...
Lipid storage disease (a congenital disorder that usually occurs in children)
Electrolyte imbalance
Respiratory failure
Liver failure
Kidney failure
Malabsorption syndromes, such as Whipple's disease or celiac disease ...
Lipid Storage Diseases Fact Sheet
Prepared by: Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892 ...
Glycogen Storage Disease Type II
General Discussion
Pompe disease is a glycogen storage disease.
Glycogen storage diseases or glycogenoses are a group of disorders due to a lack of one or more enzymes needed to break down glucose into its storage form, glycogen, and back from glycogen to glucose when the body requires it.
Glycogen storage disease type V (GSDV); Myophosphorylase deficiency; Muscle glycogen phosphorylase deficiency; PGYM deficiency
Causes ...
Glycogen storage diseases are caused by deficiencies of enzymes involved in glycogen synthesis or breakdown; ...
Glycogen storage diseases
Infections, such as hepatitis A, B, and C
Liver cancer and benign liver tumors ...
Glycogen Storage Disease Type I ... joint disease
Gonorrhea ... gonococcal arthritis
Gout ... arthritis, joint immobility
Group A Streptococcal Infections ... joint infections (septic arthritis) ...
Glycogen storage disease
Any of a number of rare inborn errors of metabolism caused by defects in specific enzymes or transporters involved in the metabolism of glycogen
Glycogen ...
Lysosomal storage diseases: In normal cells, lysosomes break down certain substances using enzymes. Enzymes speed up chemical reactions in the body. In lysosomal storage diseases, there are either not enough enzymes or the enzymes don't work.
Glycogen storage diseases
A group of birth defects that change the way the liver breaks down glycogen. See also Glycogen.
Lysosomal Storage Diseases in Adults.
By Rapola J
Related Articles Lysosomal storage diseases in adults. Pathol Res Pract. 1994 Sep;190… more… ...
Glycogen storage disease: Any one of the 14 recognized diseases that interfere with the storage of carbohydrates as glycogen in the body, aka McArdle's disease.
Neonatal iron storage disease
Certain metabolic disorders such as tyrosinemia and galactosemia
Fructose intolerance
Familial erythrophagocytic histiocytosis
Peroxisomal diseases
Defects in respiratory chain and fatty acid oxidation.
Lipid storage diseases. In this rare group of inherited metabolic disorders, a toxic buildup of excess fats (lipids) occurs in the brain and nervous system.
Subacute sclerosing panencephalitis.
This is called a storage disease as metabolic products accumulate in cells as the result of a mutation in a gene that codes for an enzyme that normally breaks down these molecules.
Clinical Correlations ...
McArdle syndrome (glycogen storage disease type V)
McCune-Albright syndrome
MD
Measles
Meatal stenosis
Meckel's diverticulum
Meconium aspiration (inhalation)
Meconium aspiration syndrome (MAS)
Median nerve dysfunction
Mediastinal emphysema ...
Lactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V, type VI, type VII) - fructose metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism ...
Cori disease see Glycogen Storage diseases
Cornelia de Lange syndrome
Coronal Synostosis see Craniofacial conditions
Cortical Malformations
Corticobasal Degeneration
Costello syndrome
Cot Death
Cowden disease
Cowden syndrome see Cowden disease ...
Acid maltase deficiency is also known as glycogen storage disease type II (GSD II) because it is characterized by a buildup of glycogen in the muscle cells. Glycogen is the chemical substance muscles use to store sugars and starches for later use.
Visser G, Rake JP, Labrune P, et al; Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1. Eur J Pediatr. 2002 Oct;161 Suppl 1:S120-3. Epub 2002 Sep 13. [abstract] ...
[6] Other risk factors include alcoholic cirrhosis, hemochromatosis, alpha-l-antitrypsin deficiency, glycogen storage disease, porphyria cutanea tarda, tyrosinemia, and Wilson disease,[2] but rarely biliary cirrhosis.
type I glycogen storage disease, which causes problems in controlling blood sugars when a person fasts
porphyria, a condition that causes a malfunction in how the body uses porphyrins.
other myopathiesincluding congenital myopathies, glycogen storage diseases and other metabolic myopathies, polymyositis and dermatomyositis ...
Mucopolysaccharidosis (MPS) is a group of related lysosomal storage diseases. Lysosomes are compartments in cells that break down molecules and remove waste products from cells.
Metabolic disorders, such as thyroid disease and glycogen storage disease. (In glycogen storage disease, the body's cells don't use a form of glucose (sugar) properly.) ...
Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. It is a genetic disorder that typically follows an autosomal recessive inheritance pattern. Cystinosis is the...
Full article ...
Other, less common causes of liver cancer include glycogen storage disease, anabolic steroids, accumulation of copper in the liver due to a genetic disorder (Wilson's disease), ...
Gaucher disease (a lipid storage disease);
blood cell disorders (sickle cell anemia, thalassemia, spherocytosis);
Inflammatory disease (lupus, rheumatoid arthritis); ...
Cystic fibrosis, alpha-1 antitrypsin deficiency, hemochromatosis, Wilson disease, galactosemia, and glycogen storage diseases are inherited diseases that interfere with how the liver produces, processes, and stores enzymes, proteins, metals, ...
Infantile Sialic Acid Storage Disease
IVA
Interpretative Value Analysis; Intraoperative Vascular Angiography; Isovaleric Acid ...
Von Gierke disease is also called Type I glycogen storage disease (GSD I).
Alternative Names
Type I glycogen storage disease ...
Synonyms: brancher glycogen storage disease
The information shown above for debrancher deficiency is provided by Stedman's.
Inherited diseases including Alpha-1 antitrypsin deficiency, hemochromatosis, Wilson's disease, galactosemia, and glycogen storage diseases interfere with the way the liver produces, processes, and stores enzymes, proteins, metals, ...
Metabolic diseases: These include glycogen storage diseases. Variable neutrophil counts are observed.
An inherited liver disease, such as Wilson's disease, hemochromatosis, alpha1-antitrypsin deficiency, glycogen storage disease, and autoimmune hepatitis
Prolonged exposure to certain toxins
Certain forms of heart disease ...
They include Wilson disease, cystic fibrosis, alpha-1 antitrypsin deficiency, hemochromatosis, galactosemia, and glycogen storage disease.
Most of these diseases are not common but they can be devastating.
These include diseases that cause excess copper or iron to be deposited in the liver as well as galactosemia - a rare disorder that affects the way the body metabolizes milk sugar (lactose) - and glycogen storage diseases, which prevent glycogen, ...
immune deficiencies (severe combined immunodeficiency disorder, Wiskott-Aldrich syndrome)
sickle cell disease
thalassemia
Blackfan-Diamond anemia
metabolic/storage diseases (i.e., Hurler's syndrome, adrenoleukodystrophy disorder) ...
Most umbilical hernias are not related to disease. However, umbilical hernias can be associated with rare conditions such as mucopolysaccharide storage diseases, Beckwith-Wiedemann syndrome, and Down syndrome.
Glycogen storagedisease (GSD) involves defects that cause an abnormal accumulation of glycogen, usually found in the liver, muscle, or both. When accumulation occurs in the liver, glycogen storage diseases result in liver enlargement and in ...
of cirrhosis worldwide is infection by the hepatitis B virus. Biliary cirrhosis is a type caused by disruption of bile flow and is more common in women. Other causes include schistosomiasis and hemochromatosis, a hereditary iron storage disease.
 See also: Symptom, Deficiency, Cancer, Glycogen Storage Disease, Kidney
  
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