Phenylalanine-restricted Diets in the Treatment of Phenylketonuria

Phenylalanine-restricted diets in the treatment of phenylketonuria.

Phenylalanine restriction has been used in the treatment of the metabolic and mental disorders of phenylketonuria with conflicting results. Bickel, Gerrard and Hickmans (1953) reported the first successful treatment of a child aged 31 who was observed for 12 months in hospital and at home. The biochemical abnormality of phenylpyruvic acid in the urine was corrected in this patient, but evidence...

Studies on phenylketonuria. I. Restricted phenylalanine intake in phenylketonuria.

Brain phenylalanine concentrations in phenylketonuria: research and treatment of adults.

OBJECTIVE To assess the effects of 2 pharmacologic interventions (amino acid supplements) on the brain levels of phenylalanine (Phe) in adults with phenylketonuria (PKU). METHODS A prospective study was conducted in an outpatient treatment and follow-up setting. The volunteers who were recruited for the first intervention included 4 subjects with classic PKU. The second intervention included ...

Phenylalanine Metabolism: Phenylketonuria

The hydroxylase is a trimer of approximately 150 kDa of identical subunits and is located predominantly in the liver. The enzyme has been mapped to human chromosome 12q22-24.1, where the gene comprises 13 exons extending over 90 kb of genomic DNA. Deletions in the gene are not common. A frequent cause among northern Europeans (~40%) is a G-to-A transition at the 5′ donor splice site in intron 1...

Long-term beneficial effects of the phenylalanine-restricted diet in late-diagnosed individuals with phenylketonuria.

The potential benefits to society of treating late-diagnosed mentally retarded persons with phenylketonuria were investigated. In order to ascertain the effects of late dietary intervention, the charts of 124 adults with PKU seen in the metabolic service at the Childrens Hospital of Los Angeles were reviewed. Fifty-nine were diagnosed later than 3 months of age and were over the age of 18 years...