clinical chem presentation on beta enolase

8/7/2019 clinical chem presentation on beta enolase

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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

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clinical chem presentation on beta enolase