Mcardle Disease

McArdle Disease was first described by Dr. Brain McArdle in 1951 [1-2]. This disease is also called Glycogenosis Type V or Myophosphorylase regard disease. Dr. McArdle identified this disease in 30-year-old man who was facing the problems regarding performance intolerance, pain, stiffness and failing in the ponderositys. After the series of lapse and analysis, McArdle concluded that the disorder in the 30-year-old patient was due to lose of formation of lactic acid in passs from animal starch. However, the ad hoc enzyme break was identified eight years later by W. F. H. M. Mommaerts et al. The inadequate enzyme associated with the disease is called Myophosphorylase [2]. Some of the symptoms of the disease atomic function 18 burgundy-colored urine (myoglobinuria) fatigue, bugger off along intolerance, poor stamina, muscle cramps, muscle pain, muscle stiffness, muscle weakness and so on. some(prenominal) tests performed for the diagnosis of the diseases ar elec tromyography, brokertic testing, lactic acid in blood, muscle biopsy, plasma ammonia, serum creatin kinase [3]. Myophosphorylase is the isoform of the enzyme glycogen phosphorylase. This isoform enzyme is use to break glycogen and produce glucose-1-phosphate which puke abide glycolysis. This enzyme is typically used in glycogen sectionalisation in muscle.

The gene for Myophosphorylase has been cloned, sequenced and assigned to chromosome 11q13 [4]. This deficiency in Myophosphorylase is seen in skeletal muscules. In human body there are three isoform of the enzyme phosphorylase which are B enzyme record in heading and heart, L enzyme which is be in liver and M enzyme which is! present in muscles [2]. In the case of McArdle disease, patient lacks Myophosphorylase due to which glycogen cannot be wiped out(p) down into glucose-1-phosphate. Hence there are no chances for glucose-1-phosphate to undergo glycolysis, followed by krebs cycle and oxidative phosphorylation and ultimately no ATPs are generated in skeletal muscle [5]. This is the reason...If you want to get a full essay, order it on our website: BestEssayCheap.com

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