Developmental Defects of Enamel in Phenylketonuria Patients

Source: Journal of Dentistry for Children - Category: Dentistry Authors: Tags: Clinical Article Source Type: research

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ConclusionsMany women with PKU have unmet sexual and reproductive health needs. Pregnancy fears are prominent from adolescence onwards and for some women overarching concerns about their ability to cope with pregnancy led to a decision not to have children. Interventions are needed to reduce the psychological impact of the risk of maternal PKU syndrome and assist with safe pregnancies. Post-natal experiences of women with PKU give rise to concern.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
CONCLUSIONS Our findings indicate a significant prevalence of parents' complaints of attention problems and hyperactivity in non-adherent to treatment and intellectually low performing patients with PKU. PMID: 30375370 [PubMed - in process]
Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
This study was performed on 280 unrelated chromosomes from 140 Iranian patients with classic PKU. All 13 exons as well as exon-intron boundaries of the PAH gene were analyzed by direct DNA sequencing. Thirty four different mutations were identified by a mutation detection rate of 100%. IVS10-11G > A, p.P281L, R261Q, p.F39del and IVS11+1G > C were the most prevalent mutations with frequencies of 26.07%, 19.3%, 12.86%, 6.07 and 3.93%, respectively. All other mutations represented a relative frequency less than 3.5%. The data from this study provided a comprehensive spectrum of the PAH gene mutations...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
People with Phenylketonuria (PKU) who respond to tetrahydrobiopterin (BH4) often decrease dependence on medical food (MF) following increased phenylalanine (phe) tolerance. Responders to BH4 may experience a r...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Despite dietary intervention, individuals with early treated phenylketonuria (ETPKU) could present neurocognitive deficits and white matter (WM) abnormalities. The aim of the present study was to evaluate the ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
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Source: Nutritional Neuroscience - Category: Nutrition Authors: Source Type: research
CONCLUSIONS: PA parents make situational adjustments to their child's highly specialized diet. Uncertainty exists as to the situational adjustments being within the guidelines used by the metabolic healthcare team who rely on parents to inform them about dietary situational adjustments. PMID: 30357861 [PubMed - as supplied by publisher]
Source: JPEN Journal Of Parenteral And Enteral Nutrition - Category: Nutrition Authors: Tags: JPEN J Parenter Enteral Nutr Source Type: research
Pediatrics International,Volume 60, Issue 10, Page 985-986, October 2018.
Source: Pediatrics International - Category: Pediatrics Authors: Source Type: research
In this study, we developed a novel whole-cell biosensor for the quantification of phenylalanine and tyrosine through the expression of red and green fluorescent proteins. The proposed system responds specifically and sensitively to phenylalanine/tyrosine without interferences from other amino acids. Furthermore, the precision of the biosensor was evaluated using specimens of normal human urine by LC-MS. PMID: 30340682 [PubMed - in process]
Source: Analytica Chimica Acta - Category: Chemistry Authors: Tags: Anal Chim Acta Source Type: research
We report the practical, social and psychological issues of living with phenylketonuria (PKU) from one of the largest surveys that has been completed by both adults with PKU and parents/caregivers of children.MethodsIn the UK, parents/caregivers of children and adults with PKU were invited to complete an online survey between November 2017 to January 2018 by the NSPKU (National Society for Phenylketonuria).Results631 participants (adults, n = 338; parents/caregivers of children, n = 293) with PKU completed the questionnaire. Problems experienced by children with PKU were: difficulty with maintaining focus (48%, n...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
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