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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)
  • 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)
  • 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
  • This enzyme deficiency also results in derangement of other important metabolites in the body thus causing imbalance or excessive accumulation of these metabolites, especially fats like lipids and triglycerides. (rarediseases.org)
  • 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)
  • myopathy
  • Four patients had vacuolar myopathy with glycogen excess in muscle biopsy. (ovid.com)
  • 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)
  • excess
  • As a result, the liver is clogged with excess glycogen and becomes enlarged and fatty. (thefreedictionary.com)
  • 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)
  • buildup
  • Alternatively to the protein targets, LSDs may be classified by the type of protein that is deficient and is causing buildup. (wikipedia.org)
  • 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
  • This causes low levels of muscle glycogen that is very resistant to amylase. (wikipedia.org)
  • 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
  • The most common form is Type I, or von Gierke's disease, which occurs in one out of every 100,000 births. (thefreedictionary.com)
  • 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)
  • archaea
  • The glycogen-degrading enzyme of the archaea Sulfolobus solfataricus, treX, provides an interesting example of using a single active site for two activities: amylosidase and glucanotransferase activities. (wikipedia.org)