Phenylalanine Effects on Brain Function in Adult Phenylketonuria

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...

Biochemical and neuropsychological effects of elevated plasma phenylalanine in patients with treated phenylketonuria. A model for the study of phenylalanine and brain function in man.

Phenylketonuria provides a human model for the study of the effect of phenylalanine on brain function. Although irreversible mental retardation is preventable through newborn diagnosis and dietary phenylalanine restriction, controversy exists regarding the effects of increased concentrations of phenylalanine in older patients. We have studied ten older, treated, phenylketonuric patients using a...

The effects of tetrahydrobiopterin (BH4) treatment on brain function in individuals with phenylketonuria☆

Phenylketonuria (PKU) is a rare genetic condition characterized by an absence or mutation of the PAH enzyme, which is necessary for the metabolism of the amino acid phenylalanine into tyrosine. Recently, sapropterin dihydrochloride, a synthetic form of tetrahydrobiopterin (BH4), has been introduced as a supplemental treatment to dietary phe control for PKU. Very little is known regarding BH4 tr...