Catalog

Glycogen storage disease due to LAMP-2 deficiency

No MMS code

Link to WHO Definition

Glycogen storage disease due to LAMP-2 deficiency – http://id.who.int/icd/entity/331119306

Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.