Question

Mention the causes and effects phenylketonuria.

Answer 1

Phenylketonuria is a condition in which the amino acid phenylalanine is accumulating inside the body.

Cause:

The disease is caused due to the defective gene of phenylalanine hydroxylase involved in the digestion of the amino acid phenylalanine. When the phenylalanine is not broke down, it starts accumulating in the body.

Effects:

• Intellectual problems
  
• Seizures
  
• Behavioral problems
  
• Delayed growth
  
• Skin disorders
  
• Musty odour in the urine and breath