Phenylketonuria (PKU) is an autosomal recessive disease that results from a defect in an enzyme that normally metabolizes the amino acid phenylalanine; when this enzyme is defective, high levels of phenylalanine cause brain damage. In the past, most children with PKU became intellectually disabled. Fortunately, intellectual disability can be prevented in these children by carefully controlling the amount of phenylalanine in the diet. The diet is usually applied during childhood, when brain development is taking place. As a result of this treatment, many people with PKU now reach reproductive age. Children born to women with PKU (who are no longer on a phenylalanine-restricted diet) frequently have low birth weight, developmental abnormalities, and intellectual disabilities. However, children of men with PKU do not have these problems. Q. Provide an explanation for these observations.
Phenylketonuria (PKU) is an autosomal recessive disease that results from a defect in an enzyme that normally
Q. Provide an explanation for these observations.
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