Glycogen Storage Diseases von Gierke disease, Andersen’s disease, McArdle’s disease

Glycogen Storage Diseases

Carbohydrate metabolism provides energy for meta­bolic functions of cell.

Metabolism of glucoseSome Facts about Glucocorticoid & Major side effects. Read more ... » generates ATP by glycolysis and oxidative phosphorylation.

Any one of several heritable diseases characterized by the abnormal storage and accumulation of glycogen in the tissues, esp. in the liver

Dietary sources of glucose:

  • · Polysaccharide (starch)
  • · Disacchride (lactose, maltose, sucrose)
  • ·Monosaccharide (galactose, fructose).
  • Sucrose is fructose + glucose.
  • Lactose is galactose + glucose.
  • Fructose is found in fruits, vegetables, honey.
  • Galac­tose is found in milk. Glycogen is storage form of glu­cose in liver and muscles.
glucose metablism disease

Glycogen Storage Diseases von Gierke diseaseBacterial Infections DIPHTHERIA Causes Diagnosis Treatment with Signs and Symptoms. Read more ... », Andersen’s disease, McArdle’s disease

Defects in glycogen metabolism result in accumlation of glycogef, in tissues called glycogen stoage diseases.

Most common GSDs are:

Type Enzyme Percent of total
Liver glycogenoses
Type I Glucose-6-phosphatase systemBacterial Infections DIPHTHERIA Causes Diagnosis Treatment with Signs and Symptoms. Read more ... », This autosomal recessive genetic disorder is due to a glucose-6-phosphatase deficiency. 25
Type III Glycogen debrancher, disease caused by a deficiency of two debranching enzymes in liver and muscle tissues. 24
Type VI and VIII Liver phosphorylase and phosphorylase b kinase 30
Type IV Glycogen branching enzyme, disease marked by liver failure, muscular weakness, muscular contractures, and death in the first few years of life 3
Muscle glycogenoses
Type II Acid maltase, disease caused by a deficiency of lysosomal -glucosidase. 15
Type V Muscle phosphorylase, disease caused by a muscle phosphorylase deficiency 2
Type VII Phosphofructokinase, disease caused by a deficiency of muscle phosphofructokinase and characterized by muscular weakness and cramping following exercise <1
  • · Glucose-6 phosphate deficiency
  • · Lysosomal acid alpha glucosidase deficiency
  • · Myophosphorylase deficiency – Mc Ardle disease.

Glucose-6 phosphatase deficiency (von Gierke disease) or GSD-I

Treatment

Pompe disease or GSD II

Treatment

  • High protein diet
  • Enzyme replacement therapy.

Mc Ardle disease or GSD-V

  • · There is muscle phosphorylase deficiency
  • · Presents in adults
  • · There is exercise intolerance
  • · Muscle cramps
  • · Burgandy coloured urine (red urine) – due to rhabdomyolysis
  • · There is inflammatory myopathy.

Treatment

  • High protein diet.

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