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.
 Characteristics of the enzyme
• The enzyme beta-enolase is present in skeletal and
heart muscle so its known as a muscle specific enzyme.

• enolase is the enzyme catalyzing the ninth step of

glycolysis, the mechanism.

• involves the transfer of a phosphoryl group from

phosphoenolpyruvate which are formed by the actions
of enolase in the glycolysis i.e. is the conversion of 2-
phosphoglycerate to phosphoenolpyruvate.
• 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% of enolase activity is accounted for by

the beta-enolase subunit
Role in the glycolytic pathway
Role in glycolosis
Enolase enyzme Beta unit of enolase enzyme
 Causes
• Genetic conditions (mutation)

• Metabolic conditions (The optimum pH for this

enzyme is 6.5)

• Congenital conditions (at birth)

 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 potentially
suggests a reduced requirement for energy.
 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.

• No rise of serum lactate was observed

• observed with the ischemic forearm exercise

• Ultrastructural analysis showed focal sarcoplasmic

accumulation of glycogen beta particles
 Signs and symptoms
• Beta enolase deficiency includes the 6 symptoms
listed below:
• Myalgia (muscle pain)
• Exercise intolerance
• Muscle weakness
• Easy muscle fatigue
Myalgia (muscle pain)
Muscle weakness
Muscle weakness
 Relationship with other disease

• β-Enolase protein plays a major role and also acts as

marker in many disorders such as
• Rhabdomyosarcoma,
• Muscular Dystrophy
• Congenital Dystrophy
• Epistaxis,
• Osteosarcoma
• Malaria
• Acute Myocardial Infarction
• Pneumoniae

• Also beta enolase is progressive in muscular

dystrophy and other neuromuscular diseases. But no
evidence it there to say it is the actual cause of these
deficiency
 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 β-Enolase protein.
 Diagnosis
• Elevated creatine kinase
• High 2-phosphoglycerate
• Low phosphoenolpyruvate
• Absence of pyruvic acids