This study examined motor control in 61 early and continuously treated patients with phenylketonuria (PKU) and 69 control participants, aged 7 to 14 years. The pursuit task demanded concurrent planning and execution of unpredictable movements, whereas the tracking task required a highly automated circular movement that could be planned in advance. PKU patients showed significantly poorer motor ...

Ion-exchange HPLC was developed for testing dried blood-spot specimens from newborns. The method is suitable for quantitative confirmatory testing of abnormal specimens detected in the New York State Newborn Screening Program. Positive specimens were initially identified among all New York State newborns with semiquantitative bacterial inhibition assays (BIA) for aminoacidopathies, including ph...

Mutations in the gene encoding for phenylalanine hydroxylase (PAH) result in phenylketonuria (PKU) or hyperphenylalaninemia (HPA). Several 3-dimensional structures of truncated forms of PAH have been determined in our laboratory and by others, using x-ray crystallographic techniques. These structures have allowed for a detailed mapping of the >250 missense mutations known to cause PKU or HPA fo...

Detection of individuals with phenylketonuria (PKU), an autosomal recessively inherited disorder in phenylalanine degradation, is straightforward and efficient due to newborn screening programs. A recent introduction of the pharmacological treatment option emerged rapid development of molecular testing. However, variants responsible for PKU do not all suppress enzyme activity to the same extent...

We describe three unrelated individuals, two males (ages 35 and 9) and a female (age 8) presenting with late diagnosed phenylketonuria (PKU) and autistic behavior, all showing poor adhesion to the dietary treatment resulting in high plasmatic phenylalanine levels, particularly in the oldest subject. Clinical findings included hair hypopigmentation, microcephaly, severe mental retardation with a...

rapid and in time diagnosis of phenylketonuria (pku) in affected infants can help preventing the progress of mental and developmental disorders associated with the disease. here we report the isolation of alkaliphilic bacillus bacteria capable of producing high level of phenylalanine dehydrogenase (phedh) from soil. a new quantitative and rapid test for pku diagnosis was then developed using th...

It has been shown that there is a decrease in the concentrations of 25 hydroxyvitamin D (25-OHD) and bone mineral density (BMD) patients with phenylketonuria (PKU) their follow-up. Our objective was to determine 25-OHD subjects PKU hyperphenylalaninemia (HPA). Transversal analytical study considered three groups: G1-PKU neonatal diagnosis formula intake without Phe; G2-HPA, specific treatment G...

The newborn screening for phenylketonuria (PKU) has become a common practice in many countries. The success of this type of mass screening is the result of the reliability of the Guthrie test in the identification of high blood phenylalanine levels. Recently, new syndromes other than PKU have been recognized that give high blood phenylalanine levels. These syndromes are referred to as “atypical...

In a previous study (Kindt et al. 1983, 1984) it was assumed that a protein hydrolysate, devoid of phenylalanine, together with intact protein as given to children with phenylketonuria (PKU), was equivalent to egg or milk protein. One group of children was given this 'PKU protein' in amounts corresponding to the Joint FAO/WHO ad hoc Expert Committee (1973) recommendations. The results indicated...

Three novel mutations have been identified in the phenylalanine hydroxylase (PAH) genes of Chinese classical phenylketonuria (PKU) patients. Two of these substitutions (W326X and Y356X) result in the generation of a premature stop codon, while the third (IVS-7nt2) alters an invariant dinucleotide splicing signal. These mutations together account for about 10% of all PKU alleles in the Chinese p...