Glycogen storage disease is any one of several inborn errors of metabolism that result from enzyme defects that affect the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. ... Neuraminidase ribbon diagram An enzyme (in Greek en = in and zyme = leaven) is a protein, or protein complex, that catalyzes a chemical reaction and also controls the 3D orientation of the catalyzed substrates. ... Glycogen is the principal storage form of glucose in animal cells. ... A top-down view of skeletal muscle Muscle is a contractile form of tissue. ... The liver is an organ in vertebrates including humans. ...
There are eight diseases that are commonly considered to be glycogen storage diseases:
GSD type IV: glycogen branching enzyme deficiency, Andersen disease
GSD type V: muscle glycogen phosphorylase deficiency, McArdle disease
GSD type VI: liver phosphorylase deficiency
GSD type VII: muscle phosphofructokinase deficiency
GSD type IX: phosphorylase kinase deficiency
GSD type 0: glycogen synthase deficiency
Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs because it is another defect of glycogen storage and can cause similar problems. von Gierkes disease, is a glycogen storage disease, it is genetic disorder caused by a glucose-6-phosphatase deficiency. ... Pompes disease is a type II glycogen storage disease. ... Andersen disease is a glycogen storage disorder. ... McArdle disease (sometimes called McArdles disease or muscle phosphorylase deficiency) is a metabolic disorder, more specifically a glycogen storage disease, caused by a deficiency of the enzyme muscle phosphorylase (sometimes known as myophosphorylase). ...
Glycogenstoragedisease is any one of several inborn errors of metabolism that result from enzyme defects that affect the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
GSD type III: glycogen debrancher deficiency, Cori's disease or Forbe's disease
Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs because it is another defect of glycogenstorage and can cause similar problems.