PKU


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PKU

abbr.
phenylketonuria

PKU

abbreviation for
(Pathology) phenylketonuria

PKU

phenylketonuria.
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.PKU - a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency
inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
Translations

PKU

V. phenylketonuria.
References in periodicals archive ?
The establishment of mass newborn screening programs allowed the detection of PKU in the neonatal period and the early establishment of dietary treatment, resulting in a normal cognitive development (10).
In clinical studies, treatment with subcutaneous pegvaliase substantially reduced blood Phe compared to placebo using a randomized withdrawal study design, and led to long-term maintenance of Phe reduction in the majority of adult patients with PKU.
Here are a few suggestions of where to start: * PKU recipes and tips, chat and advice on Facebook:
La PKU se hereda de forma autosomica recesiva, se han descrito en el mundo alrededor de 970 mutaciones (http://www.
Thus, with the availability of PKU samples, comprehensive studies have been conducted on the PAH gene and its pathogenic allele (6,7).
It will also serve to establish collaboration between QU and PKU in the field of education and research, as well as students and faculty exchange.
She said: "I went through my teens thinking I was fine and maybe just a bit stupid but looking back, I realise it was the PKU which was responsible for making me do silly things.
In addition, the patient was examined in terms of metabolism and was diagnosed as having PKU.
In several parts of Iran, neonatal screening of PKU has already begun.
They both have PKU (Phenylketonuria) and must follow a very low-protein diet.
A manutencao da dieta ao longo da vida e uma preocupacao, pois a PKU e uma doenca cronica [1,5,6,14,21,25].