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Adult subjects with classical phenylketonuria (PKU) who were diagnosed and treated neonatally participated in this long-term follow-up study. Twenty-four subjects received neuropsychological (NP) assessment and a subset received magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) to identify: (1) pattern of cognitive dysfunction; (2)(More)
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(More)
Early-treated PKU children were compared to their matched non-PKU sibling controls on Wechsler Intelligence Scale for Children (WISC) and Wide Range Achievement Test (WRAT) results at age 8. Fifty-five PKU children had mean WISC Full Scale IQ score of 100, in comparison to a mean of 107 for their matched sibling controls (p = 0.001). Treatment parameters(More)
Phenylketonuric children who were treated early and maintained a pherestricted diet through age 10 were compared with those who discontinued the diet after age 6 on a standardized test of intelligence, school achievement, language and perceptual skills. Mean IQ, reading and spelling test scores improved between ages 6 and 10 for the on-diet children in(More)
Transmissible spongiform encephalopathies (TSEs) are neurological disorders that include genetic, infectious and sporadic forms of human Creutzfeldt-Jakob disease (CJD). The pathogenic agent is the prion protein that is composed of an abnormal isoform (PrP(Sc)) of a host-encoded protein (PrP(C)). Analysis of the relative amounts of PrP(Sc) glycoforms has(More)
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 the development of this consensus statement acknowledged the lack of data regarding the potential for more subtle suboptimal outcomes and the need for further research into treatment(More)
Early treated phenylketonuric children who maintained a phe-restricted diet through age 10 were compared with those who discontinued the diet after age 6 on standardized tests of intelligence, school achievement, language, and perceptual skills. Mean IQ, reading, and spelling test scores improved between ages 6 and 10 for the on-diet children in comparison(More)
OBJECTIVE To examine the relationship of phenylalanine hydroxylase (PAH) genotypes to biochemical phenotype and cognitive development in maternal phenylketonuria (PKU). METHODOLOGY PAH gene mutations were examined in 222 hyperphenylalaninemic females enrolled in the Maternal PKU Collaborative Study (MPKUCS). A total of 84 different mutations were(More)