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What is beta enolase deficiency?
It is a autosomal recessive disorder and a new
metabolic myopathy of distal glycolysis that it is
caused by a deficiency of the enzyme beta enolase.
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Characteristics of the enzyme The enzyme beta-enolase is present in skeletal and
heart muscle so its known as a muscle specificenzyme.
enolase is the enzyme catalyzing the ninth step ofglycolysis, the mechanism.
involves the transfer of a phosphoryl group fromphosphoenolpyruvate which are formed by the
actions ofenolase in the glycolysis i.e. is theconversion of 2-phosphoglycerate tophosphoenolpyruvate.
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It is a dimeric enzyme which exists in different
isoforms resulting from various combinations of
three subunits, alpha, gamma and beta
Enolase is a enzyme catalying the ninth step in the of
the glycolytic pathway
over 90% ofenolase activity is accounted for by
the beta-enolase subunit
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Role in the glycolytic pathway
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Role in glycolosis
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Enolase enyzme Beta unit of enolase enzyme
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Causes
Genetic conditions (mutation)
Metabolic conditions (The optimum pH for this
enzyme is 6.5)
Congenital conditions (at birth)
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Genetic conditions inherited as autosomal recessive traits The beta subunit is encoded by a gene (ENO3) on
chromosome 17.
Glycogen storage disease XIII (GSD13) has defects in
the ENO3 gene at locus 17pter-p12 coding for beta-
enolase.
The decreased expression of ENO3 may be
associated with its role in glycolysis, and potentiallysuggests a reduced requirement for energy.
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Epidemiology
GSD XIII is still represented:
Discovered in 2001
by a single patient, a 47-year-old Italian man with
adult onset
chronically elevated serum creatine kinase.
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No rise of serum lactate was observed
observed with the ischemic forearm exercise
Ultrastructural analysis showed focal sarcoplasmic
accumulation of glycogen beta particles
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Signs and symptoms
Beta enolase deficiency includes the 6 symptoms
listed below:
Myalgia (muscle pain)
Exercise intolerance
Muscle weakness
Easy muscle fatigue
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Myalgia (muscle pain)
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Muscle weakness
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Muscle weakness
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Relationship with other disease
-Enolase protein plays a major role and also acts as
marker in many disorders such as
Rhabdomyosarcoma,
Muscular Dystrophy
Congenital Dystrophy
Epistaxis,
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Osteosarcoma
Malaria
Acute Myocardial Infarction
Pneumoniae
Also beta enolase is progressive in muscular
dystrophy and other neuromuscular diseases. But noevidence it there to say it is the actual cause of these
deficiency
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Treatment
The important mechanism in treating any disease is
targeting the malfunctioning protein structure with
suitable ligands also known as potential drug
candidates
Nonaethylene Glycol was found to be the best ligand
which returned an Energy value of -95.82
Nonaethylene Glycol could be acted as a potential
drug candidate against -Enolase protein.
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Diagnosis
Elevated creatine kinase
High 2-phosphoglycerate
Low phosphoenolpyruvate
Absence of pyruvic acids