Friday, July 25, 2008   
 Search   
European Network for Rare and Congenital Anaemias
Register  Login  
Public Pages » ENERCA services » Anaemias covered » Aldolase deficiency -ALD-  
 Professionals    
   
  
 Public    
   
  

Eurordis member RVB


Eurordis member RVB


ue.gif    


Saludalia    


visits

Last update: 10 - 03 - 2008

 Aldolase deficiency    

Aldolase deficiency

Aldolase is an enzyme of the anaerobic glycolytic pathway involved in cleaving fructose 1.6 diphosphate into triose phosphates.

Distribution

Aldolase A is predominant in muscle and red blood cells.

Laboratory and Clinical Picture

A deficiency of Aldolase A can lead to muscular disorders (myopathies) with exercise intolerance or breakdown of muscle fibres (rhabdomyolysis) associated with haemolytic anaemia.

Transmission Mode

The condition is transmitted as an autosomal recessive trait.

 

   
  

Return to list of Rare Anaemias

DotNetNuke® is copyright 2002-2008 by DotNetNuke Corporation