Phenylketonuria (PKU) is an inborn error of phenylalanine (phe) and tyrosine (tyr) metabolism. It anautosomal recessive disease occurred due to deficiency liver enzyme hydroxylase (PAH).Hence, phe not converted tyr accumulated in the body. Phe thus channeled alternativeroutes metabolism forms Phenylketones excreted urine. Early treatment essential preventmental retardation other intellectual di...

Phenylketonuria (PKU) is an inborn error of metabolism, and its detrimental effects on neurocognitive functioning have been well studied. Early detection and treatment of PKU prevent the severe consequences of this disorder. However, even early- and well-treated patients experience hidden disabilities, including subtle deficits in executive functioning, mild reductions in mental processing spee...

Phenylalanine hydroxylase (PAH) deficiency, commonly known as phenylketonuria (PKU), is one of the most common inborn errors of amino acid metabolism. It is inherited as an autosomal recessive trait. Prevalance of PKU is approximately 1:10000 in Europe and 1:15000 in the USA but may vary widely in other regions of the world [1]. Due to the high rate of consanguineous marriages (20-25%) [2], dis...

BACKGROUND Central precocious puberty (CPP) and phenylketonuria (PKU) are two rare conditions, the latter being the rarer. To date, only one case featuring both these conditions has been reported, and hyperphenylalaninemia was assumed triggering CPP. CASE PRESENTATION We present a 3.2 years old girl referred with a 12 months history of breast and pubic hair development, and vaginal discharge....

OBJECTIVES The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). METHODS A systematic review of clinical efficacy evidence and cost-effectiveness modeling of screening in newborn infants within a UK National Health Service perspective was...

Phenylketonuria (PKU) is a genetic disorder characterised by an inability to metabolise phenylalanine. Several studies have reported that the Corpus Callosum (CC) is one of the most severely affected structures with respect to volume loss in early treated PKU patients. In this work, we aim to detect the abnormalities of the CC in PKU from both global and local perspectives. 3D models of the CC ...

We participate in two tasks of TRECVID 2009: high-level feature extraction (HLFE) and search. This paper presents our approaches and results in the two tasks. In HLFE task, we mainly focus on exploring the effective feature representation, data imbalance learning and fusion between different data sets. In feature representation, we adopt five basic visual features and six keypoint-based BoW fea...

OBJECTIVE To provide information on the history of maternal phenylketonuria. METHODS A review of the literature and personal observations were conducted. RESULTS Compilation of sequential information about the development of our understanding of maternal PKU was produced. CONCLUSIONS The history of maternal PKU reflects continuous additions to our understanding of this teratogenic syndrome.

conclusions this finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with pku. introduction phenylketonuria (pku) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (pah) gene. most of the pah mutations are missense mutations (67%), which are followed by sma...