The mechanisms by which deficiency of hepatic phenylalanine hydroxylase causes central
nervous system disease are reviewed. The neurological disease appears to be secondary to …

Abstract Phenylketonuria (PKU; OMIM 261600) is an autosomal recessive inborn error of
phenylanaline metabolism. PKU is characterized by deficient or defective phenylalanine …

Large neutral amino acids (LNAAs), including phenylalanine (Phe), compete for transport
across the blood-brain barrier (BBB) via the L-type amino acid carrier. Accordingly, elevated …

Phenylketonuria (PKU) is an inborn error of metabolism, and its detrimental effects on
neurocognitive functioning have been well studied. Early detection and treatment of PKU …

Abstract Treatment of hyperphenylalaninaemias due to phenylalanine hydroxylase
deficiency with a low phenylalanine (Phe) diet is highly successful in preventing …

In recent clinical trials, chronic treatment of patients with PD with pramipexole or ropinirole
was associated with a slower decline of imaged striatal dopaminergic signal, compared to …

Background Phenylketonuria (PKU) was the first disorder in which severe neurocognitive
dysfunction could be prevented by dietary treatment. However, despite this effect …

The transfer of a series of weak acids, bases and ampholytes has been studied by cyclic
voltammetry at the water∣ 1, 2-dichloroethane interface in order to determine their …

Phenylketonuria, an autosomal recessively transmitted disorder of amino acid metabolism,
is caused by a deficiency of hepatic phenylalanine hydroxylase converting phenylalanine to …

Local rates of cerebral protein synthesis (lCPSleu) were measured with the quantitative
autoradiographic [1-14C] leucine method in a genetic mouse model (Pah enu2) of …