Background: Phenylketonuria treatment based on phenylalanine-restricted diet has proven to be effective in preventing the development of long-term neurological damage. However, such diets have occasionally been reported to hinder normal development. Furthermore, to improve outcomes in these patients therapy based on administration of the cofactor BH4 has emerged. However, little is known about ...

Several criticisms of past attempts to produce experimental phenylketonuria are discussed, and a model that appears to meet these criticisms is presented. This model uses inhibition in rats of phenylalanine hydroxylase (EC 1.14.3.1) by p-chlorophenylalanine and supplementation with phenylalanine to produce a high ratio of phenylalanine to tyrosine in their blood. By this method, an experimental...

A preterm infant with classic phenylketonuria required rather less than 90 mg/kg of phenylalanine and between 270 and 290 mg/kg tyrosine daily to achieve a rate of weight gain of around 20 g/kg per day. Using Lofenalac as the low phenylalanine food, the intake of tyrosine, an essential amino acid for patients with phenylketonuria seemed to be limiting in respect of growth.

A South Wales gypsy kindred of Romany origin had a high incidence of phenylketonuria along with other recessively inherited disorders. There was a high degree of consanguinity (F = 0-017) with an excess of non-specific mental subnormality among known consanguineous matings. Phenylketonuria and a number of other recessively inherited disorders have been recorded from other Romany gypsy populatio...