PKU


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phenylketonuria

phenylketonuria (fĕnˌəlkētˌəno͝orˈēə) (PKU), inherited metabolic disorder caused by a deficiency in a specific enzyme (phenylalanine hydroxylase). The absence of this enzyme, a recessive trait, prevents the body from making use of phenylalanine, one of the amino acids in most protein-rich foods, and almost always leads to mental retardation and schizoid changes when phenylalanine levels rise; convulsions also commonly occur. Early diagnosis and treatment, which includes a carefully regulated low-phenylalanine diet begun during the first few weeks of life, may prevent serious mental deficiency. Positive improvement has been seen even when therapy is started in well-established cases. In 2007 the FDA approved the use of sapropterin dihydrochloride as a treatment. The drug can boost the ability of persons with low levels of phenylalanine hydroxylase to break down phenylalanine but will not help those who lack the enzyme. Most states have made the PKU blood or urine test mandatory for all newborn infants.
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PKU

(medicine)
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
* BMN 307 gene therapy product candidate for phenylketonuria (PKU): As previously announced, the Company expects to submit an IND and/or a CTA for a gene therapy product for the treatment of PKU in the second half of 2019.
According to Eggerding, patients with PKU must follow a strict diet that is low in phenylalanine and consequently, low in protein for their whole lives.
One of their picks was PKU, which affects 16,500 people in the United States.
After ruling out patients who were suffering from B[H.sub.4] deficiency, 18 unrelated PKU patients from Kermanshah, Hamadan, and Lorestan provinces were tested.
The following exclusion criteria were adopted: 1) inability of children and parents in understanding the study questionnaires; 2) presence of severe chronic or disabling diseases unrelated to PKU.
Research groups have reported clinical data from PKU subjects indicating low or deficient levels of several micronutrients, including iron, selenium, vitamin B-12, zinc, and fatty acids, such as total n-3 fatty acids, docosahexaenoic acid (DHA), and eicosapentaenoic acid (EPA) [10, 11, 18-20].
Classical phenylketonuria (> 20 mg / dL) was discovered in 15 newborns and moderate PKU (15-20 mg/dL) in 1 newborn.
La PKU se hereda de forma autosomica recesiva, se han descrito en el mundo alrededor de 970 mutaciones (http://www.biopku.org).La mayoria de estas alteraciones estan presentes en el exon 7 del gen que codifica para la PAH y el 60% de las mutaciones son missense produciendo el cambio de un aminoacido por otro.
This study investigated the effect of LNAA supplementation on blood Phe levels in patients with classical PKU, exhibiting poor compliance with a Phe-restricted diet and receiving long-term LNAA supplementation.
The lecture was the first of a series of events to be organised by Qatar Chair in Middle Eastern Studies at PKU. It was chaired by Gulf Studies Programme co-ordinator at QU College of Arts and Sciences (CAS) Dr Khaled Almezaini; assistant professor at CAS Department of International Affairs Dr Imad Mansour, PKU Boya chair professor and Institute of International and Strategic Studies president Prof Wang Jisi; and PKU Qatar chair in Middle Eastern Studies, IISS senior research fellow, Department of Arabic Language and Culture deputy director and Institute of Arab-Islamic Studies director Prof Wu Bingbing.
Brenda, from Bonnyrigg, Midlothian, was diagnosed with PKU at three months old.
In addition, the patient was examined in terms of metabolism and was diagnosed as having PKU.