Phenylketonuria (PKU) is a genetic condition caused by the absence of the enzyme phenylalanine hydroxylase (PAH), which is essential for converting phenylalanine into tyrosine. Instead, phenylalanine is converted into phenylpyruvic acid. Since PKU follows an autosomal recessive inheritance

Question

Phenylketonuria (PKU) is a genetic condition caused by the absence of the enzyme phenylalanine hydroxylase (PAH), which is essential for converting phenylalanine into tyrosine. Instead, phenylalanine is converted into phenylpyruvic acid. Since PKU follows an autosomal recessive inheritance pattern, both parents must carry at least one defective allele, and the child must inherit one defective allele from each parent to exhibit the disorder. A parent with PKU can have a child without the disorder if the other parent has at least one normal allele for PAH. However, if both parents have PKU, their child will always inherit two defective alleles and will also have PKU. The PAH gene is located on chromosome 12, specifically at 12q22-q24.2.

Accepted Answer

a) Correct. The statement is true because phenylketonuria (PKU) is an autosomal recessive disorder, meaning both parents must contribute a defective allele for the child to inherit the condition. If both parents have the PKU phenotype, they can only pass on defective alleles, ensuring the child will also have PKU.

Solution

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