4 results found
Article
Glycogen storage disease type V
Glycogen storage disease type V, also known as McArdle's disease, is a disorder of glycogenolysis which may not manifest until adulthood.
Clinical presentation
Non-specific symptoms such as back pain or proximal muscle weakness.
Radiographic features
Fatty atrophy of muscles similar to Pompe...
Article
Glycogen storage disease type II
Glycogen storage disease type II, also known as Pompe disease or acid maltase deficiency disease, is an inherited lysosomal storage disorder characterized by abnormal glycogen accumulation within lysosomes. It is a multisystem disorder involving the heart, skeletal muscle and liver. It is caused...
Article
Creatine kinase
Creatine kinase (CK), also known as creatine phosphokinase (CPK), is a key enzyme, for energy production in mitochondria and muscle tissues. It is important as a diagnostic assay in clinical practice, primarily because inflamed/injured muscle releases creatine kinase into the circulation 1.
Phy...
Article
Glycogen storage disease
Glycogen storage disease (GSD) refers to a number of syndromes which are characterized by a defect in synthesis, metabolism or storage of glycogen.
Pathology
There are many types of GSD:
type I: von Gierke disease
type II: Pompe disease
type III: Cori or Forbes disease
type IV: Andersen di...