Question

Phenyketonuria

03 Feb 2026
Answer :
Word Count : 222
Phenylketonuria (PKU) is a genetic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH). This enzyme is responsible for converting the amino acid phenylalanine into tyrosine, another amino acid. In individuals with PKU, the inability to metabolize phenylalanine leads to its accumulation in the blood and brain. High levels of phenylalanine can cause severe neurological damage, developmental delays, intellectual disabilities, and other neurological symptoms if not treated early. PKU follows an autosomal recessive
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