OBJECTIVES The main objective of this study was to investigate the association of psychological factors and life stressors with quality of life in caregivers of children with PKU. METHODS Participants were caregivers of children with PKU who were referred to a child and adolescent consultation-liaison psychiatry clinic for a clinical follow up. Their demographic characteristics were recorded ...

OBJECTIVE To test the efficacy of tyrosine supplementation, as an adjunct to dietary treatment, on neuropsychological test performance in individuals with phenylketonuria. DESIGN A randomised controlled trial of tyrosine supplementation using a double blind crossover procedure with three four week phases. SETTING The Hospital for Sick Children, Toronto. PARTICIPANTS 21 individuals with ph...

Although with early treatment phenylketonuria patients may have average intelligence levels, it is important to optimize the nutritional management to maintain adequate phenylalanine levels, so that patients can develop their intellectal potential free of abnormalities in their daily activities due to deficits of cognitive executive functions. This study presents a series of 26 patients, diagno...

TIIE FINDING of increased amounts of amino acids in the urine is characteristic of several inherited as well as acquired metabolic diseases. Such aminoacidurias are usually classified as “overflow” or “renal” in origin. In the former instance, it is assumed that the concentrations of amino acids in the plasma markedly exceed the capacity of the normal renal tubule to reabsorb completely the fil...

were replaced within the spinal canal. The meninges were repaired and the bony defect covered by two layers of lumbar fascia. There was some superficial wound infection, as there had been after the first operation, but healing was complete after 17 days (Fig. 3). No change in the neurological state of the legs occurred but it was noticed that the child was passing urine very frequently and was ...

Adsorption of phenolic amino acids, such as phenylalanine and tyrosine, is quite relevant for the production of protein hydrolysates used as dietary formulations for patients suffering from congenital disorders of amino acid metabolism, such as phenylketonuria. In this study, an adsorbent prepared from corn cobs was evaluated for the removal of tyrosine (Tyr) from both a single component soluti...

Phenylketonuria (PKU) is characterized by phenylalanine accumulation and progressive mental retardation caused by an unknown mechanism. We demonstrate that at pathological concentrations, phenylalanine self-assembles into fibrils with amyloid-like morphology and well-ordered electron diffraction. These assemblies are specifically recognized by antibodies, show cytotoxicity that can be neutraliz...

This study focused on important characteristics of attentional (selective) processing in children with early-treated phenylketonuria (PKU). Seven to 14-year-old children with PKU were allocated to high phenylalanine (Phe) and low Phe groups and compared with control children on amplitudes and latencies of early and late event-related potential (ERP) components elicited during a selective proces...

During surveys of amines in the urine of children, Perry et al. (1) and Perry and Schroeder (2) found among the unidentified free bases present a substance which produced an orange-red color when chromatograms were sprayed with diazotized sulfanilic acid. This substance was designated “Compound 9.” Subsequently Compound 9 has been detected in all amine concentrates of unhydrolyzed urines of a l...

The initial use of a tracer of phenylalanine was by Moss and Schoenheimer in rats in 1940 to determine that phenylalanine was hydroxylated to tyrosine, defining for the first time the primacy of this pathway. Phenylalanine and tyrosine kinetics were not measured in humans until the 1970-80s. The first application was to determine the degree of blockage of phenylalanine hydroxylation in patients...