Paper Information

Journal:   IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)   FALL 2012 , Volume 6 , Number 4 (SUPPL 1); Page(s) 7 To 9.
 
Paper: 

INFANTILE-ONSET POMPE DISEASE

 
 
Author(s):  ASHRAFI MAHMOUD REZA*, TAVASOLI ALIREZA
 
* GROWTH AND DEVELOPMENT RESEARCH CENTER, CHILDREN'S MEDICAL CENTER, TEHRAN UNIVERSITY OF MEDICAL SCIENCE, TEHRAN, IRAN
 
Abstract: 

Introduction and history: The glycogen storage disorders may show two different presentations. One group present with permanent and progressive weakness (such as GSD II, GSD III and GSD IV). Another group have intermittent episodes of weakness, muscle pain and/or myoglobinuria (such as Mc Ardle disease). Glycogen storage disease type 2 is caused by acid maltase deficiency. GSD IIis an autosomal recessive disorder that was first described by Dutch pathologist Joannes C. Pompe in 1932. And can be categorized into two types, based on the age of onset of disease and degree of organ involvement: infantile (the most severe presentation), and late type (childhood and adult). Pompe diseaseis caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA) or acid maltase. and is the only membersof glycogen storage diseases that is classified also as a lysosomal storage disorder.

 
Keyword(s): POMPE DISEASE, INFANTILE POMPE DISEASE, CARDIOMYOPATHY, DRIED BLOOD SPOT TEST
 
References: 
  • ندارد
 
  pdf-File tarjomyar Yearly Visit 50
 
Latest on Blog
Enter SID Blog