Mothers with phenylketonuria (PKU) are at increased risk of having children with
Women with PKU who plan to conceive and are not already on a phenylalanine-restricted diet should be counseled to adhere to the diet before conception and throughout pregnancy. Phenylalanine readily crosses the placenta, and high maternal serum levels can result in damage to the fetus or pregnancy loss. Hyperphenylalaninemia causes microcephaly with mental retardation and cardiac defects in the heterozygote fetus who otherwise would not be affected. Impoantly, these defects can be prevented with maternal dietary treatment. Ref : Biochemistry by U. Satyanarayana 3rd edition Pgno : 347-351
Hydrocephaly
Spina bifida
Skeletal dysplasia
Mental retardation
Metabolism of protein and amino acid