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Phenylketonuria
Background
Phenylketonuria (PKU) is an inherited metabolic condition where there is a defect in phenylalanine hydroxylase. This enzyme normally converts the phenylalanine in the body into tyrosine. Where there is an enzyme block the phenylalanine accumulates in the body tissues and affects the normal development of the brain causing learning difficulties.
Phenylalanine is an essential amino acid in dietary protein. In phenylketonuria the body is unable to make phenylalanine into other amino acids. A small quantity is required to ensure normal growth. The diet of an affected child is carefully controlled so that only the small amounts of phenylalanine necessary for growth is given. With a phenylalanine-restricted diet PKU children develop normally. It is imperative that women with PKU should be on a low phenylalanine diet before or from early pregnancy to reduce the risk of fetal abnormality.
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