BACKGROUND Phenylketonuria (PKU) is characterized by phenylalanine (Phe) accumulation to toxic levels due to the low activity of phenylalanine-hydroxylase. PKU patients must follow a Phe-restricted diet, which may put them in risk of nutritional disturbances. Therefore, we aimed to characterize body composition parameters and nutritional status in Brazilian PKU patients also considering their m...

COMMITTEE ON THE HANDICAPPED CHILD I N RESPONSE to many requests from mdividuals and agencies, the following statement on the present status of treatment of phenylketonuria (PKU) has been prepared. The Committee on Fetus and Newborn has reviewed the present status of neonatal screening for inborn errors of metabolism (e.g., PKIJ and related problems) and is reporting separately. There is consid...

After 1 started screening for phenylketonuria (PKU) in 1966, there were serious difficulties due to the lack of scientific information. There Lvere no relevant international meetings useful for a beginner. In 197 1, I was lucky to meet one of the major figures in our field, Horst Bickel. Due to his kindness. I was invited to an international symposiunl in Warsaw, Poland in 1972 where I met Robe...

Measurement of phenylalanine in plasma is required for the diagnosis and subsequent dietary management of phenylketonuria (PKU). We have developed an isocratic high-performance liquid-chromatographic (HPLC) method, with ultraviolet detection. For this measurement 10 microL of plasma is needed, and the complete analysis can be done in less than 15 min. Interbatch coefficients of variation for hu...

Phenylketonuria is an autosomal recessive inborn error of metabolism which can be prevented by early and continuous treatment. Therefore newborn screening for phenylketonuria has been introduced in many countries. We present here the results of the selective newborn screening for inborn errors of metabolism, including PKU, performed by tandem mass spectrometry which has been introduced in Maced...

During a screening programme of 10000 pregnant women by the Guthrie test, a previously unrecognised phenylketonuric woman was detected. A low phenylalanine diet introduced from the 16th week of gestation failed to prevent fetal abnormality and mental retardation. Maternal phenylketonuria requires earlier diagnosis than can be achieved at the initial antenatal clinic visit if its teratogenic eff...

Grid computing enables the massive computer resource sharing, so that many applications (e.g. experimental high energy physics (HEP) and biology researches, etc.) can be greatly benefited from this new technology to proceed to the level which was unthinkable or unreachable before. Peking University is one of 10 partners in the EUChinaGRID project funded by European Commission. In this paper, th...

This paper presents some observations on the dietary treatment of phenylketonuric children seen in Glasgow during the past decade. Both the efficacy of the low phenylalanine diet in preventing brain damage (Bessman, 1966), and the adequacy of diagnostic criteria when applied in early infancy (Schneider and Garrard, 1966; Stephenson and McBean, 1967a) have recently been questioned. We therefore ...

Phenylketonuria (PKU) is one of the few genetic diseases in which mental retardation can be prevented. Hence, diagnosis and treatment must be established early. PKU treatment consists of a phenylalanine-restricted diet supplemented with a phenylalanine-free mixture of amino acids. However, it is difficult to adhere to this diet. In the last decade, a better comprehension of the biochemistry, ge...

We have developed a reversed-phase liquid-chromatographic procedure for simultaneously determining phenylalanine and tyrosine in serum and eluates of dried blood spots. Batch derivatization with phenylisothiocyanate and a 10-min linear gradient chromatographic assay with ultraviolet absorbance detection provide rapid sample throughput. Interrun precision (CV) is less than 12%; analytical recove...