Phenylketonuria (PKU) is caused by the genetic mutation of the enzyme phenylalanine hydroxylase (PAH), which converts the essential amino acid phenylalanine into tyrosine. If its function is disrupted, an accumulation of toxic metabolic products occurs, which results in severe neurological damage if left untreated.
This autosomal recessive inherited metabolic disorder was discovered in the 1920s by the Norwegian doctor Asborn Folling, the first successful dietetic treatment of the condition was achieved by Dr Horst Bickel in the 1950s and Dr Robert Guthrie developed the first diagnostic test (Guthrie Test) for measuring the phenylalanine concentration in the blood.
With an incidence of 1:10,000, PKU is one of the most common inherited metabolic disorders.
The condition is diagnosed during newborn screening.
Treatment consists of a life-long strict low-protein diet, in which the conventional cereal products as well as eggs, milk and dairy products have to be replaced by low-protein dietetic foods. The level of protein from foods is based on the extent of the individual phenylalanine tolerance. In order to meet protein requirements, phenylalanine-free amino acid supplements need to be taken, which are also enriched with micronutrients in order to prevent malnutrition.
In addition to dietetic treatment, there is the option for treatment with medication using tetrahydropterin (BH4), the co-factor of the phenylalanine hydroxylase, which is disrupted in PKU. In patients that respond to this (responders), it is possible to increase enzyme activity and accordingly slightly relax the dietetic treatment. Strict compliance with the diet and maintaining phenylalanine concentrations within the recommended reference ranges ensures normal development and life expectancy.
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