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  • 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)
  • 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)
  • buildup
  • Alternatively to the protein targets, LSDs may be classified by the type of protein that is deficient and is causing buildup. (wikipedia.org)
  • myopathy
  • Diseases associated with GYG1 include Glycogen Storage Disease Xv and Polyglucosan Body Myopathy 2 . (genecards.org)
  • As the erythrocyte PFK is composed of both PFKL and PFKM, this heterogeneic composition is attributed with the differential PFK activity and organ involvement observed in some inherited PFK deficiency states in which myopathy or hemolysis or both can occur, such as glycogenosis type VII, also known as Tarui disease. (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)
  • characteristic
  • 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)
  • fever abnormally high bodily temperature or a disease of which an abnormally high temperature is characteristic. (britannica.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)
  • 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)
  • occurs
  • In glycogen, every 10 to 14 glucose units, a side branch with an additional chain of glucose units occurs. (wikipedia.org)
  • The disease occurs worldwide. (britannica.com)
  • 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)
  • 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)
  • Fetal alcohol syndrome is the most-severe type of fetal alcohol spectrum disorder (FASD). (britannica.com)
  • 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)
  • 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)
  • These are diseases that can be inherited via a Mendelian genetic mechanism. (wikipedia.org)