Question

In phenylketonuria

• A. Break down of phenylalanine is rapid
• B. Accumulation of phenylalanine in body
• C. Chromosomal constitution of patient charges
• D. TSD gene situated on chromosome 15 undergoes mutation

Answer 1

The correct option is B Accumulation of phenylalanine in body

Phenylketonuria (PKU) is an genetic disorder in which there is increased levels of phenylalanine in the blood. Phenylalanine is an amino acid that is obtained through the diet. It results due to defect in the gene coding for enzyme required for the breakdown of phenylalanine amino acid. Symptoms include eczema, hyperacidity, seizures, delayed development.

Thus, the correct answer is 'Accumulation of phenylalanine in body.'