Question

Use your knowledge of glycogen storage and breakdown to explain the consequence of defects in the glycogen storage pathway.

Answer 1

the list give u the refference for 8 of the GSD types in glycogen pathway so they can be called as glycogen storage diseases(GSD)

• 0 - Glycogen synthase deficiency

• Ia - Glucose-6-phosphatase deficiency (von Gierke disease)

• II - Acid maltase deficiency (Pompe disease)

• III - Debranching enzyme deficiency (Forbes-Cori disease)

• IV - Transglucosidase deficiency (Andersen disease, amylopectinosis)

• V - Myophosphorylase deficiency (McArdle disease)

• VI - Phosphorylase deficiency (Hers disease)

• VII - Phosphofructokinase deficiency (Tauri disease)

• the 4 that cause clinically significant muscle weakness are Pompe disease (GSD type II, acid maltase deficiency), Cori disease (GSD type III, debranching enzyme deficiency), McArdle disease (GSD type V, myophosphorylase deficiency), and Tarui disease (GSD type VII, phosphofructokinase deficiency). One form, von Gierke disease (GSD type Ia, glucose-6-phosphatase deficiency), causes clinically significant end-organ disease with significant morbidity. The remaining GSDs are not necessarily benign but are less clinically significant; therefore, the physician should consider the aforementioned GSDs when initially entertaining the diagnosis of a GSD. Interestingly, GSD type 0 also is described, which is due to defective glycogen synthase.

  These inherited enzyme defects usually present in childhood, although some, such as McArdle disease and Pompe disease (also known as acid maltase deficiency), have separate adult-onset forms. In general, GSDs are inherited as autosomal recessive conditions. Several different mutations have been reported for each disorder.

  Unfortunately, no specific treatment or cure exists, although diet therapy may be highly effective at reducing clinical manifestations. In some cases, liver transplantation may abolish biochemical abnormalities. Active research continues