Question

Describe the defect in metabolism responsible for the disorder identifying any enzyme(s) involved. Analyze the symptoms of the disease based on the metabolic disturbance. Discuss therapy available for treatment of the disorder. Does the therapy treat the symptoms or the metabolic nature of the disease? Explain.

Answer 1

• Single gene defects mostly responsible for inherited metabolic disorders.
• For example Galactosemia is a metabolic disorder where defects in galactose mechanism could be observed.
• Due to the deficiency of enzyme galactose-1-phosphate uridyl transferase, galactose formed from lactose, could not able to get converted into glucose.
• lactose--------->glucose + galactose
• galactose------>glucose-1-phosphate------->glucose-6-phosphate------>glucose
• Due to this enzyme deficiency, galactose gets build up in liver, blood, eyes, neurons, brain and kidneys leading to liver cirrhosis, hepatomegaly, cataract, neuronal loss could be observed.
• Galactokinase deficiency is also another form of galactose genetic disease which leads to mental retardation.
• The disease could be controlled by taking galactose-free diet and lactose-free diet.