Phenylketonuria (PKU)

What is Phenylketonuria (PKU)?

Phenylketonuria (PKU) is an inherited disorder of phenylalanine metabolism, caused by a deficiency of the enzyme phenylalanine hydroxylase, which leads to mental retardation if untreated. The aim of dietary management is to prevent the accumulation of phenylalanine by means of a low phenylalanine diet. Protein requirements are met by supplementing the diet with a phenylalanine free amino acid mixture. Phenylalanine requirements are met by including a small amount of natural protein in the diet (e.g. by means of an exchange system in UK). In certain circumstances (such as pregnancy) an additional tyrosine supplement may be required. This is available from SHS

Bibliography

Report of Medical Research Council on the Dietary Management of Phenylketonuria.
Recommendations on the Dietary Management of Phenylketonuria. Arch. Dis. Child.
1993: 68; 426-7.

Dixon M., MacDonald A, White F. Disorders of Amino Acid Metabolism, Organic
Acidaemias and Urea Cycle Defects Phenylketonuria in Lawson M, Shaw V (eds.).
Clinical Paediatric Dietetics.Oxford:Blackwell Science, 2001, p233 - 294

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