Glycogen Storage Disorders Explained: Causes, Types, And Symptoms

Glycogen Storage Disorders Explained: Causes, Types, And Symptoms

Question 1. Glycogen Storage Disorders
Answer:

Definition:

• The metabolic defects concerned with glycogen synthesis and degradation are referred to as glycogen storage disorders.

Causes:

• Enzyme defect
• Hereditary

Types:

Question 2. Galactosemia.
Answer:

It is a rare congenital disease in infants.

Causes:

1. Galactose 1 – phosphate uridyltransferase deficiency.
   • Impairs galactose metabolism which leads to.
   • Galactosemia – increased galactose level in blood.
   • Galactosuria – increased galactose level in urine.
2. Production of galactitol from galactose
   • Galactitol causes.
   • Cataract
   • Impaired function of liver, kidney, and nervous tissue.
3. Accumulation of galactose 1 -phosphate – causes.
   • Depletion of inorganic phosphate from the liver.
   • Impairment of liver, kidney, and nerve function.

Other symptoms:

• Loss of weight
• Hepatosplenomegaly
• Jaundice
• Mental retardation
• Amino aciduria
• Albuminuria Treatment:
• Intake of diet which lacks galactose and lactose.

2. Galactokinase deficiency – lends to

• Galactosemia.
• Development of cataracts at a very early age at birth or within a year.