By analogy to the revolution the “home glucose monitor” created in the treatment of diabetes,
the availability of a modular,“platform” technology able to measure nearly any metabolite …

Background Phenylketonuria is an inherited disease caused by impaired activity of
phenylalanine hydroxylase, the enzyme that converts phenylalanine to tyrosine, leading to …

Dietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to
low-phenylalanine diet progressively decreases after adolescence. We designed a survey to …

BACKGROUND: The National Institute of Health (NIH) published a Consensus Statement on
the screening and management of Phenylketonuria (PKU) in 2000. The panel involved in …

In phenylketonuria (PKU), it is common for blood phenylalanine (Phe) concentrations to be
outside optimal target ranges, particularly in teenagers and adults, indicating inadequate …

Background The strict and demanding dietary treatment and mild cognitive abnormalities
seen in PKU treated from a young age can be expected to affect the health-related quality of …

Current knowledge of the disposition kinetics of endogenous metabolites is founded almost
entirely on poorly time-resolved experiments in which samples are removed from the body …

Determination of the amino acid phenylalanine is important for lifelong disease
management in patients with phenylketonuria, a genetic disorder in which phenylalanine …

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

OBJECTIVE: To evaluate the ability of sapropterin dihydrochloride (pharmaceutical
preparation of tetrahydrobiopterin) to increase phenylalanine (Phe) tolerance while …