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  • substrate
  • In addition, substrate reduction therapy, a method used to decrease the production of storage material, is currently being evaluated for some of these diseases. (wikipedia.org)
  • Shown by x-ray crystallography, glycogen branching enzyme has four marginally asymmetric units each that are organized into three domains: an amino-terminal domain, involved in determining the length of the chain transfer, a carboxyl-terminal domain, involved in substrate preference and catalytic capacity, and a central (α/β) barrel catalytic domain. (wikipedia.org)
  • In comparison to the other family members, glycogen binding enzyme has shorter loops, which result in a more open cavity, favorable to the binding of a bulkier substrate such as branched sugar. (wikipedia.org)
  • Although single gene defects typically result in substrate accumulation, the precise underlying pathophysiologic mechanisms that lead to clinical symptoms are not entirely clear. (medscape.com)
  • Pompe
  • Enzyme replacement therapy (ERT) appears safe and effective for peripheral manifestations in patients with Gaucher disease types I and III, Fabry disease, mucopolysaccharidosis I (Hurler, Hurler-Scheie, and Scheie syndromes), mucopolysaccharidosis II (Hunter syndrome), mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), and Pompe disease. (medscape.com)
  • metabolites
  • Common screening tests used in the last sixty years: Ferric chloride test (turned colors in reaction to various abnormal metabolites in urine) Ninhydrin paper chromatography (detected abnormal amino acid patterns) Guthrie bacterial inhibition assay (detected a few amino acids in excessive amounts in blood) The dried blood spot can be used for multianalyte testing using Tandem Mass Spectrometry (MS/MS). This given an indication for a disorder. (wikipedia.org)
  • Though not universally used, 'metabolic fatigue' is a common term for the reduction in contractile force due to the direct or indirect effects of two main factors: Shortage of fuel (substrates) within the muscle fiber Accumulation of substances (metabolites) within the muscle fiber, which interfere either with the release of calcium (Ca2+) or with the ability of calcium to stimulate muscle contraction. (wikipedia.org)
  • buildup
  • Alternatively to the protein targets, LSDs may be classified by the type of protein that is deficient and is causing buildup. (wikipedia.org)
  • symptoms
  • If an individual receives one normal copy of the gene (allele) and one abnormal/defective copy of gene (allele) for the disease, the person will be a carrier for the disease, but usually will not show symptoms. (rarediseases.org)
  • Many other children die of this disease following years of suffering from various symptoms of their particular disorder. (wikipedia.org)
  • Diagnostic procedures will vary depending on the symptoms and suspected type of glycogen storage disease at hand. (petmd.com)
  • Accumulated data indicate that hematopoietic stem cell transplantation may be effective under optimal conditions in preventing the progression of central nervous system symptoms in neuronopathic forms of lysosomal storage diseases, including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses. (medscape.com)
  • Milder forms may not cause any muscle symptoms, and the diagnosis is based on abnormal blood tests in the context of other problems. (wikipedia.org)
  • skeletal
  • Interestingly, even though PFKM functions to drive glycolysis, its overexpression has been associated with type 2 diabetes and insulin resistance in skeletal muscle. (wikipedia.org)
  • enzymes
  • Proteins that catalyze both functions are referred to as glycogen debranching enzymes (GDEs). (wikipedia.org)
  • When glucosyltransferase and glucosidase are catalyzed by distinct enzymes, "glycogen debranching enzyme" usually refers to the glucosidase enzyme. (wikipedia.org)
  • According to the lack of the enzymes, GSD can be divided into at least 16 types. (omicsonline.org)
  • Glycogen storage disease, also known as glycogenosis, is a rare inherited disorder with various types, all characterized by deficient or defective activity of the enzymes responsible for metabolizing glycogen in the body. (petmd.com)
  • Glycogen branching enzyme belongs to the α-amylase family of enzymes, which include α-amylases, pullulanas/isoamylase, cyclodextrin glucanotransferase (CGT), and branching enzyme. (wikipedia.org)
  • Glycogen binding enzymes in other organisms have also been crystallized and structurally determined, demonstrating both similarity and variation to GBE found in Escherichia coli. (wikipedia.org)
  • More recently, the concept of lysosomal storage disease has been expanded to include deficiencies or defects in proteins necessary for the normal post-translational modification of lysosomal enzymes (which themselves are often glycoproteins), activator proteins, or proteins important for proper intracellular trafficking between the lysosome and other intracellular compartments. (medscape.com)
  • exertional rhabdomyolysis
  • Horses with Type 1 PSSM usually appear normal at rest, but show signs of exertional rhabdomyolysis ("tying up") such as shortened stride, stiffness, firm musculature, sweating, pain or reluctance to exercise, when asked to perform light work. (wikipedia.org)
  • Causes
  • Release of the components of muscle tissue into the bloodstream causes electrolyte disturbances, which can lead to nausea, vomiting, confusion, coma or abnormal heart rate and rhythm. (wikipedia.org)
  • Many structural muscle diseases feature episodes of rhabdomyolysis that are triggered by exercise, general anesthesia or any of the other causes of rhabdomyolysis listed above. (wikipedia.org)
  • subunit
  • This 85-kDa protein is one of two subunit types that comprise the seven tetrameric PFK isozymes. (wikipedia.org)
  • The liver PFK (PFK-5) contains solely the second subunit type, PFKL, while the erythrocyte PFK includes five isozymes composed of different combinations of PFKM and PFKL. (wikipedia.org)
  • molecule
  • Because the enzyme works with such specificity regarding the number of glucose units transferred and the position to which they are transferred, the enzyme creates the very characteristic, highly branched glycogen molecule. (wikipedia.org)
  • excessive
  • Additionally, some horses have been shown to have insulin sensitivity, which improves glucose uptake by muscle cells and contributes to excessive glycogen storage that is already elevated secondary to the GSY1 mutation. (wikipedia.org)
  • result
  • Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys that can result in an enlarged liver and kidneys and growth retardation leading to short stature. (rarediseases.org)
  • Developmental orthopedic disease (DOD) can be loosely defined as any musculoskeletal disorder that occurs in the young animal as a result of growth and maturation. (stablemanagement.com)
  • An abnormal result is often followed by a subsequent "definitive test" to confirm the suspected diagnosis. (wikipedia.org)
  • One possible explanation suggests that the overexpression is meant to compensate for the allosteric inhibition of PFK1 as a result of excess oxidation of free fatty acids and accumulation of citrate and acetyl-CoA. (wikipedia.org)
  • It can be a result of vigorous exercise but abnormal fatigue may be caused by barriers to or interference with the different stages of muscle contraction. (wikipedia.org)
  • disorder
  • Neurons appear to be particularly vulnerable to the accumulation of polyglucosan bodies in people with this disorder, leading to impaired neuronal function. (wikipedia.org)
  • reaction
  • allogeneic disease graft-versus-host reaction occurring in immunosuppressed animals receiving injections of allogeneic lymphocytes. (thefreedictionary.com)
  • Cases of drug-induced hepatitis can manifest with systemic signs of an allergic reaction including rash, fever, serositis (inflammation of membranes lining certain organs), elevated eosinophils (a type of white blood cell), and suppression of bone marrow activity. (wikipedia.org)
  • Type A drug reaction accounts for 80% of all toxicities. (wikipedia.org)
  • tissue
  • A tissue enzyme analysis and determination of glycogen levels can serve as a definitive diagnosis. (petmd.com)
  • Because it is released during tissue damage, it is a marker of common injuries and disease such as heart failure. (wikipedia.org)
  • Drugs or toxins that have a pharmacological (type A) hepatotoxicity are those that have predictable dose-response curves (higher concentrations cause more liver damage) and well characterized mechanisms of toxicity, such as directly damaging liver tissue or blocking a metabolic process. (wikipedia.org)
  • Tetramer composition varies depending on tissue type. (wikipedia.org)
  • Prolonged inflammation, known as chronic inflammation, leads to a progressive shift in the type of cells present at the site of inflammation, such as mononuclear cells, and is characterized by simultaneous destruction and healing of the tissue from the inflammatory process. (wikipedia.org)
  • diagnosis
  • For the latter diseases, treatments are currently not available and the prognosis for recovery is generally poor thus it is important that a reliable diagnosis be made as early as possible. (vin.com)
  • The diagnosis of neuromuscular diseases is dependent on thorough physical and neurological examinations, specific serological testing, electrophysiological evaluations, and examination of optimally processed of muscle and peripheral nerve biopsies. (vin.com)
  • occurs
  • In glycogen, every 10 to 14 glucose units, a side branch with an additional chain of glucose units occurs. (wikipedia.org)
  • As in the case of acetaminophen overdose, this type of injury occurs shortly after some threshold for toxicity is reached. (wikipedia.org)
  • Idiosyncratic (type B) injury occurs without warning, when agents cause non-predictable hepatotoxicity in susceptible individuals, which is not related to dose and has a variable latency period. (wikipedia.org)
  • mechanism
  • It is thought to proceed through a two step acid base assistance type mechanism, with an oxocarbenium ion intermediate, and retention of configuration in glucose. (wikipedia.org)
  • Although this type of chronic insulin resistance is harmful, during acute illness it is actually a well-evolved protective mechanism. (wikipedia.org)