Phenylketonuria Research Today is a free monthly online journal that collates and summarizes the latest research about Phenylketonuria, including details on genetics, causes, symptoms, hereditary disorder.

Mutation spectrum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran.

Hamzehloei T, Hosseini SA, Vakili R, Mojarad M

Mashhad University of Medical Sciences, Human Genetics Department, Mashhad-Iran.

BACKGROUND: Characterization of the molecular basis of phenylketonuria (PKU) in North-east of Iran has been accomplished through the analysis of 62 unrelated chromosomes from 31 Iranian PKU patients. METHODS: Phenylalanine hydroxylase (PAH) gene mutations have been analyzed by direct DNA sequencing exons 6, 7, 10 and 11. RESULTS: A mutation detection rate of 74% was achieved. Eleven different mutations were found, with the most frequent mutation, IVS10-11G>A, accounting for 19% of Khorasan-Razavi PKU alleles. Ten mutations (R176X, E280K, IVS11+1G>C, S231P, Q383X, R243X, I224T, E390G, R252W and P281L) represent the rest PKU chromosomes. One novel mutation, Q383X in the homozygote form was identified which is located in the catalytic domain (residues143-410). CONCLUSION: With this high detection rate of mutations in North-east of Iran, new strategy for carrier testing could be DNA sequencing of these four exons. The other exons and boundaries will be studied only when either one or no mutations are detected in the initial screen.

Published 10 July 2012 in Gene.
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Articles on Phenylketonuria published 3 July 2012:

Newborn screening for lysosomal storage diseases: an ethical and policy analysis.   J Inherit Metab Dis, 35(4): 627-34.

The traditional focus of newborn screening (NBS) is testing infants for medical conditions like phenylketonuria (PKU) that may cause significant morbidity or mortality unless treatment is initiated early. Although the Wilson and Jungner criteria were not designed specifically for NBS, the public health screening criteria have been used, with some modifications, to justify what conditions are included in a universal NBS panel. These criteria are being challenged by platform technologies like ... [Abstract] [Full-text]

Articles on Phenylketonuria published 26 June 2012:

Depressive symptoms in adolescents with early and continuously treated phenylketonuria: Associations with phenylalanine and tyrosine levels.   Gene, 504(2): 288-91.

[Abstract] [Full-text]

Articles on Phenylketonuria published 25 June 2012:

An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.   J Inherit Metab Dis.

OBJECTIVES: The present study summarizes clinical and biochemical findings, current treatment strategies and follow-up in patients with tetrahydrobiopterin (BH(4)) deficiencies. METHODS: We analyzed the clinical, biochemical and treatment data of 626 patients with BH(4) deficiencies [355 with 6-pyruvoyl-tetrahydropterin synthase (PTPS), 217 with dihydropteridine reductase (DHPR), 31 with autosomal recessive GTP cyclohydrolase I (GTPCH), and 23 with pterin-4a-carbinolamine dehydratase (PCD) ... [Abstract] [Full-text]

Articles on Phenylketonuria published 21 June 2012:

Commentary: What degree of hyperphenylalaninaemia requires treatment?   J Inherit Metab Dis.

Despite some 50 years' experience in the treatment of phenylketonuria and numerous scientific publications on the subject there is no clear consensus as to what degree of hyperphenylalaninaemia will result in intellectual impairment. Studies of three main types, on untreated cases of moderate hyperphenylalaninaemia, on treated cases of phenylketonuria, and on the effects of current blood phenylalanine concentration on executive function, have lead to different conclusions. Overall, there ... [Abstract] [Full-text]

Articles on Phenylketonuria published 19 June 2012:

Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH(4) loading test and PAH analysis.   Mol Genet Metab, 106(3): 264-8.

Until today, the mainstay of phenylketonuria (PKU) treatment is a phenylalanine (Phe)-restricted diet. Strict dietary treatment decreases flexibility and autonomy and still has a major impact on patients and their families. Compliance is often poor, particularly in adolescence. The aim of this study was to investigate the effect of the intake of fruits and vegetables containing Phe less than 100mg/100g ('simplified diet'), as recommended by WHO for all individuals, instead of classical totally ... [Abstract] [Full-text]

Recommendations for the use of sapropterin in phenylketonuria.   Mol Genet Metab, 106(3): 269-76.

Phenylketonuria (PKU) is an inherited disorder of phenylalanine (Phe) metabolism. Until recently, the only treatment for PKU was a Phe-restricted diet. Increasing evidence of suboptimal outcomes in diet-treated individuals, inconsistent PKU management practices, and the recent availability of tetrahydrobiopterin (BH(4)) therapy have fueled the need for new management and treatment recommendations for this metabolic disorder. BH(4), now available as sapropterin dihydrochloride (sapropterin), may ... [Abstract] [Full-text]

Articles on Phenylketonuria published 18 June 2012:

Phenylalanine assembly into toxic fibrils suggests amyloid etiology in phenylketonuria.   Nat Chem Biol.

Phenylketonuria (PKU) is characterized by phenylalanine accumulation and progressive mental retardation caused by an unknown mechanism. We demonstrate that at pathological concentrations, phenylalanine self-assembles into fibrils with amyloid-like morphology and well-ordered electron diffraction. These assemblies are specifically recognized by antibodies, show cytotoxicity that can be neutralized by the antibodies and are present in the hippocampus of model mice and in parietal cortex brain ... [Abstract] [Full-text]

Breast-feeding Success Among Infants With Phenylketonuria.   J Pediatr Nurs, 27(4): 319-27.

Breast milk is the nutrition of choice for human infants (American Academy of Pediatrics, 2005; American Association of Family Physicians, 2008; Association of Women's Health Obstetric and Neonatal Nurses, 2005; Canadian Paediatric Society, 2005; U.S. Preventive Services Task Force, 2008; World Health Organization, 2009). In comparison to standard commercial formula, human breast milk has a lower concentration of protein and a lower content of the amino acid phenylalanine (Phe). For infants ... [Abstract] [Full-text]

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