Diseases

Disorders Of Carbohydrate Metabolism

Glycogen Storage Disease

Description: is a group of inborn errors of metabolism due to enzyme deficiency or dysfunction. They reduce the effective (mobilizable) glucose stores by interfering with normal glycogen synthesis and degradation.

There are nine diseases that are commonly considered to be glycogen storage diseases: Von gierke’s diseases; Pompe’s disease; Cori’s disease or Forbe’s disease; Andersen disease; McArdle disease; Hers’s disease; Tarui’s disease; Fanconi-Bickel disease, and GSD type IX.

Effect: Synthetic errors cause decreased normal glycogen-deposition of abnormally branched glycogen chains. Degradation errors tend to block formation of glucose from glycogen, leading to hypoglycemia and accumulation of glycogen in the tissues.

Galactosemia

Description: GALACTOSEMIA is a hereditary disease that is caused by the lack of a liver enzyme required to digest galactose.

Effect: May become mentally retarded if not diet restricted by 3 weeks.
Treatment: Galactose restricted diet