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Journal articles on the topic 'PKU / Phenylketonuria'

Author: Grafiati

Published: 4 June 2021

Last updated: 2 February 2022

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1

Cabalska, Barbara, and Irena Nowaczewska. "187 Maternal Phenylketonuria/PKU/." Pediatric Research 28, no. 3 (1990): 308. http://dx.doi.org/10.1203/00006450-199009000-00211.

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2

Cleary, Maureen, and J. H. Walter. "Assessment of Adult Phenylketonuria." Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 38, no. 5 (2001): 450–58. http://dx.doi.org/10.1177/000456320103800502.

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Phenylketonuria (PKU) has been detected on the newborn screening programme since the 1960s. Although it is recognised that dietary treatment is successful in avoiding the severe mental retardation associated with untreated PKU, the long-term outcome for adults remains unclear. The Medical Research Council recommends that the diet be followed for life. This paper discusses the relevance of the findings of neurological deterioration, neuropsychological problems and brain imaging in adults with PKU. It suggests an approach to follow-up for adults with PKU including neurological assessments, aware

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3

Mancilla, Viviana J., Allison E. Mann, Yan Zhang, and Michael S. Allen. "The Adult Phenylketonuria (PKU) Gut Microbiome." Microorganisms 9, no. 3 (2021): 530. http://dx.doi.org/10.3390/microorganisms9030530.

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Phenylketonuria (PKU) is an inborn error of phenylalanine metabolism primarily treated through a phenylalanine-restrictive diet that is frequently supplemented with an amino acid formula to maintain proper nutrition. Little is known of the effects of these dietary interventions on the gut microbiome of PKU patients, particularly in adults. In this study, we sequenced the V4 region of the 16S rRNA gene from stool samples collected from adults with PKU (n = 11) and non-PKU controls (n = 21). Gut bacterial communities were characterized through measurements of diversity and taxa abundance. Additi

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4

Brown, Christine S., and Uta Lichter-Konecki. "Phenylketonuria (PKU): A problem solved?" Molecular Genetics and Metabolism Reports 6 (March 2016): 8–12. http://dx.doi.org/10.1016/j.ymgmr.2015.12.004.

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5

Hanley, W. B., J. T. R. Clarke, and W. Schoonheyt. "Maternal phenylketonuria (PKU) — A review." Clinical Biochemistry 20, no. 3 (1987): 149–56. http://dx.doi.org/10.1016/s0009-9120(87)80112-1.

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6

Sorbera, L. A., C. Dulsat, and A. I. Graul. "Therapeutic targets for phenylketonuria (PKU)." Drugs of the Future 45, no. 11 (2020): 813. http://dx.doi.org/10.1358/dof.2020.45.11.3233359.

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7

Valsasina, R., E. Riva, G. Biasucci, R. Longhi, and M. Giovannini. "Study on the Pteridines Metabolism in Children Affected by Hyperphenylalaninaemia and Phenylketonuria." Pteridines 1, no. 2 (1989): 129–31. http://dx.doi.org/10.1515/pteridines.1989.1.2.129.

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Summary Atypical phenylketonuria (PKU) is caused by tetrahydrobiopterin (BH4) deficiency. In Italy a systematic screening service for BH4 deficiency is not currently performed, therefore its real frequency is not known yet. We determined urinary excretion of biopterin (B) and neopterin (N) by HPLC in 74 phenylketonuric and hyperphenylalaninemic subjects, including all newborns with positive Guthrie's test for PKU since 1984. We found two patients with N and B urinary values above the classical PKU range. In these subjects we also performed a BH4 loading test that restored a normal plasma pheny

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8

Shedlovsky, A., J. D. McDonald, D. Symula, and W. F. Dove. "Mouse models of human phenylketonuria." Genetics 134, no. 4 (1993): 1205–10. http://dx.doi.org/10.1093/genetics/134.4.1205.

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Abstract Phenylketonuria (PKU) results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of phenylalanine (PHE) to tyrosine. Although this inborn error of metabolism was among the first in humans to be understood biochemically and genetically, little is known of the mechanism(s) involved in the pathology of PKU. We have combined mouse germline mutagenesis with screens for hyperphenylalaninemia to isolate three mutants deficient in phenylalanine hydroxylase (PAH) activity and cross-reactive protein. Two of these have reduced PAH mRNA and display characteristic

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9

Feillet, François, and Shyue-Fang Battaglia-Hsu. "Sapropterin in the Treatment of Phenylketonuria." Clinical Medicine Insights: Therapeutics 2 (January 2010): CMT.S2721. http://dx.doi.org/10.4137/cmt.s2721.

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Sapropterin has recently been approved to treat hyperphenylalaninaemia in patients over 4 year-old with tetrahydrobiopterin (BH4)-responsive phenylketonuria (PKU) and in children and adults with BH4 deficiency. 1 The effectiveness of this treatment in BH4-responsive PKU patients has already been demonstrated in randomized, double-blind trials; 2 moreover, Sapropterin appears well tolerated in PKU patients. It is thus the first non-dietary treatment for patients with PKU demonstrated capable of lowering blood phenylalanine levels, and as a result, it is a promising treatment option for BH4 resp

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10

Said, Khadiga M., and Safaa F. Draz. "The Effect of Empowerment Program for Nurses Regarding Management of Children with Phenylketonuria." Evidence-Based Nursing Research 1, no. 4 (2020): 9. http://dx.doi.org/10.47104/ebnrojs3.v1i4.107.

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Context: Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. If PKU did not diagnose early in life or the affected children with PKU do not be compliant with the treatment regimen (food), it leads to severe cognitive or behavioral problems, seizures, and autistic symptoms. Aim: The current study aimed to evaluate the effect of empowerment program on nurses' management of children with phenylketonuria. Methods: Quasi-experimental research (one group pre/post-test) design was used to conduct this

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11

Õunap, K., H. Lilleväli, A. Metspalu, and M. Lipping-Sitska. "Development of the phenylketonuria screening programme in Estonia." Journal of Medical Screening 5, no. 1 (1998): 22–23. http://dx.doi.org/10.1136/jms.5.1.22.

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Objective To develop the phenylketonuria (PKU) screening programme in Estonia. Method All data about patients with PKU, born during 1980–92, were documented to establish its prevalence at birth in Estonia. Newborn screening for the diagnosis and treatment of PKU was started in Estonia in 1993 and the prevalence at birth established by screening. Phenylalanine was determined from filter paper blood by a modified fluorometric method based on enhancement of the fluorescence of a phenylalanine-ninhydrin reaction product by L-leucyl-L-alanine. Results During three years (1993–5) 36 074 newborns (85

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12

Fisberg, Regina Mara, Maria Eugênia da Silva-Fernandes, Benjamim José Schmidt, and Mauro Fisberg. "Nutritional evaluation of children with phenylketonuria." Sao Paulo Medical Journal 117, no. 5 (1999): 185–91. http://dx.doi.org/10.1590/s1516-31801999000500002.

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CONTEXT: Dietary phenylalanine (PA) restriction is the most effective form for reducing its excess in the blood and is the only efficient method for treating phenylketonuria. The diet is complex and should be adapted to combine the patients' eating habits, growth and development. It depends basically on the use of industrialized products as substitutes free of PA for proteins that are not fully supplied. OBJECTIVE: To evaluate the nutritional status of children with phenylketonuria (PKU) by anthropometric measurements and food intake. DESIGN: Cross-sectional study. SETTING: Children with PKU a

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13

Finger, Stanley, and Shawn E. Christ. "Pearl S. Buck and Phenylketonuria (PKU)." Journal of the History of the Neurosciences 13, no. 1 (2004): 44–57. http://dx.doi.org/10.1080/09647040490885484.

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14

Matalon, Reuben, and Kimberlee Michals. "Phenylketonuria: screening, treatment and maternal PKU." Clinical Biochemistry 24, no. 4 (1991): 337–42. http://dx.doi.org/10.1016/0009-9120(91)80008-q.

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15

Bushueva, Tatyana V. "DIAGNOSIS AND TREATMENT OF PHENYLKETONURIA: OPPORTUNITIES AND PROSPECTS." Russian Pediatric Journal 21, no. 5 (2019): 306–11. http://dx.doi.org/10.18821/1560-9561-2018-21-5-306-311.

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A review of current data on phenylketonuria (PKU) and the differential diagnosis of various forms of hyperphenylalaninemia (HFA) is presented. There are considered existing worldwide recommendations for the treatment of patients with classical PKU and HFA. Neonatal screening has been shown to provide an early diagnosis of classical PKU and HFA, and the timely appointment and commitment of patients with a hypophenylalanine diet remains to be the main method for preventing CNS damage. Molecular diagnosis of PKU helps to confirm the results of laboratory screening of newborns and facilitates the

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16

Pimentel, Filipa B., Rita C. Alves, M. Teresa Oliva-Teles, et al. "Targeting specific nutrient deficiencies in protein-restricted diets: some practical facts in PKU dietary management." Food Funct. 5, no. 12 (2014): 3151–59. http://dx.doi.org/10.1039/c4fo00555d.

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17

Rocha, Julio César, Margreet van Rijn, Esther van Dam, et al. "Weight Management in Phenylketonuria: What Should Be Monitored?" Annals of Nutrition and Metabolism 68, no. 1 (2015): 60–65. http://dx.doi.org/10.1159/000442304.

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Background: Severe intellectual disability and growth impairment have been overcome by the success of early and continuous treatment of patients with phenylketonuria (PKU). However, there are some reports of obesity, particularly in women, suggesting that this may be an important comorbidity in PKU. It is becoming evident that in addition to acceptable blood phenylalanine control, metabolic dieticians should regard weight management as part of routine clinical practice. Summary: It is important for practitioners to differentiate the 3 levels for overweight interpretation: anthropometry, body c

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18

Hegge, Karly A., Kristin K. Horning, Gregory J. Peitz, and Kassy Hegge. "Sapropterin: A New Therapeutic Agent for Phenylketonuria." Annals of Pharmacotherapy 43, no. 9 (2009): 1466–73. http://dx.doi.org/10.1345/aph.1m050.

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Objective: To summarize the role of pharmacotherapy in the management of phenylketonuria (PKU) and to review the pharmacology, pharmacokinetics, pharmacodynamics, efficacy data, and safety profile of sapropterin for this indication. Data Sources: A literature search was conducted using MEDLINE (1966–May 2009), International Pharmaceutical Abstracts (1970–May 2009), and Cochrane database (2008) for the following key words: sapropterin, tetrahydrobiopterin, phenylketonurias, and phenylalanine. Study Selection and Data Extraction: English-language studies involving humans examining the role of te

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19

Peters, Stacy, Deidra Van Gilder, Kyle Dvoracek, and Karly A. Hegge. "Pharmacotherapy Options in the Management of Phenylketonuria." Clinical Medicine Insights: Therapeutics 3 (January 2011): CMT.S6200. http://dx.doi.org/10.4137/cmt.s6200.

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Phenylketonuria (PKU) is an autosomal recessive disorder related to a deficiency in the enzyme phenylalanine hydroxylase (PAH), which converts phenylalanine to tyrosine. As a result, phenylalanine can accumulate in the bloodstream, potentially leading to severe neurologic sequelae. Traditionally, PKU management involves strict dietary phenylalanine restriction, although adherence to this diet is suboptimal, necessitating improved therapeutic options. Sapropterin (Kuvan®) is a synthetic form of tetrahydrobioterin (BH4), a cofactor for PAH, and offers promise for patients with residual enzyme pr

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20

Proņina, Natālija, and Rita Lugovska. "Association between minihaplotypes and mutations at the phenylalanine hydroxylase locus in Latvian phenylketonuria patients." Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences. 65, no. 3-4 (2011): 73–79. http://dx.doi.org/10.2478/v10046-011-0021-5.

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Association between minihaplotypes and mutations at the phenylalanine hydroxylase locus in Latvian phenylketonuria patients Phenylketonuria (PKU) is an inherited metabolic disease caused by recessively inherited mutations in the PAH gene that encodes the enzyme phenylalanine hydroxylase (PAH). Altogether, 20 diseases causing mutations were identified in Latvian PKU patients. R408W, the most common mutation, accounted for 73% of Latvian PKU chromosomes and was mostly observed in association with the VNTR3/STR238 minihaplotype. Minihaplotypes also were established for the other 19 mutations and

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21

Mojibi, Nastaran, Shabnam Ghazanfari-Sarabi, and Seyed Mohammad Bagher Hashemi-Soteh. "The Prevalence and Incidence of Congenital Phenylketonuria in 59 Countries: A Systematic Review." Journal of Pediatrics Review 9, no. 2 (2021): 83–96. http://dx.doi.org/10.32598/jpr.9.2.826.2.

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Context: Phenylketonuria (PKU) is the most frequent inborn error of metabolism, in which newborns cannot metabolize phenylalanine to tyrosine. Increased phenylalanine in untreated patients with PKU can cause serious intellectual disability; its onerous financial burden also falls on societies. This review study aimed to systematically indicate the frequency of PKU worldwide. We also intended to highlight the global prevalence of PKU, which might shed light on better clinical management and screening programs. Methods: In this systematic review, two electronic databases, including PubMed and Sc

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22

Daly, Anne, Sharon Evans, Alex Pinto, Catherine Ashmore, and Anita MacDonald. "Protein Substitutes in PKU; Their Historical Evolution." Nutrients 13, no. 2 (2021): 484. http://dx.doi.org/10.3390/nu13020484.

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Protein substitutes developed for phenylketonuria (PKU) are a synthetic source of protein commonly based on L-amino acids. They are essential in the treatment of phenylketonuria (PKU) and other amino acid disorders, allowing the antagonistic amino acid to be removed but with the safe provision of all other amino acids necessary for maintaining normal physiological function. They were first formulated by a chemist and used experimentally on a 2-year-old girl with PKU and their nutritional formulations and design have improved over time. Since 2008, a bioactive macropeptide has been used as a ba

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23

Duan, Huikun, Ning Liu, Zhenhua Zhao, et al. "Non-invasive prenatal testing of pregnancies at risk for phenylketonuria." Archives of Disease in Childhood - Fetal and Neonatal Edition 104, no. 1 (2018): F24—F29. http://dx.doi.org/10.1136/archdischild-2017-313929.

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BackgroundPhenylketonuria (PKU) is a common metabolic disorder caused predominately by mutations in the phenylalanine hydroxylase (PAH) gene. The aim of the study was to design and validate the performance of a non-invasive prenatal test (NIPT) for PKU using circulating single molecule amplification and resequencing technology (cSMART).MethodsA total of 18 couples at genetic risk for having a child with PKU were recruited to the study. Gold standard invasive prenatal diagnosis (IPD) was performed on amniocyte or villus cell DNA by Sanger sequencing, targeting the known parental PAH mutations.

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Ballikaya, Elif, Yilmaz Yildiz, Hatice Serap Sivri, et al. "Oral health status of children with phenylketonuria." Journal of Pediatric Endocrinology and Metabolism 33, no. 3 (2020): 361–65. http://dx.doi.org/10.1515/jpem-2019-0439.

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AbstractBackgroundDiet plays an integral role in the maintenance of oral health, but dietary modifications due to medical problems such as phenylketonuria (PKU) can have adverse effects on oral health. This descriptive study was performed to evaluate the oral health status of children with PKU.MethodsOne hundred and ninety-seven patients with PKU aged between 1 and 22 years were evaluated. Clinical evaluations were performed by one experienced dentist regarding dental caries, gingival health and dental erosion. Categorical variables were assessed with descriptive statistics. Differences in fee

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Newbould, Ella, Alex Pinto, Sharon Evans, et al. "Accidental Consumption of Aspartame in Phenylketonuria: Patient Experiences." Nutrients 13, no. 2 (2021): 707. http://dx.doi.org/10.3390/nu13020707.

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Aspartame is a phenylalanine containing sweetener, added to foods and drinks, which is avoided in phenylketonuria (PKU). However, the amount of phenylalanine provided by aspartame is unidentifiable from food and drinks labels. We performed a cross-sectional online survey aiming to examine the accidental aspartame consumption in PKU. 206 questionnaires (58% female) were completed. 55% of respondents (n = 114) were adults with PKU or their parent/carers and 45% (n = 92) were parents/carers of children with PKU. 74% (n = 152/206) had consumed food/drinks containing aspartame. Repeated accidental

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Firman, Sarah, Radha Ramachandran, Kevin Whelan, Oliver C. Witard, and Majella O’Keeffe. "Protein status of people with phenylketonuria: a scoping review protocol." BMJ Open 11, no. 9 (2021): e049883. http://dx.doi.org/10.1136/bmjopen-2021-049883.

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IntroductionPhenylketonuria (PKU) is a disorder of protein metabolism resulting in an accumulation of phenylalanine in the body. Dietary management consists of altering the sources of ingested protein to limit phenylalanine intake. Current dietary protein guidelines for PKU are based on limited scientific evidence, thus it remains unclear whether current practice leads to optimal protein status in people with PKU. To date, no attempt has been made to systematically evaluate the protein status of people with PKU, using a combination of validated anthropometric, biochemical and functional measur

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Aghaei, Fatemeh, Seyed Morteza Seifati, and Navid Nasirizadeh. "Development of a DNA biosensor for the detection of phenylketonuria based on a screen-printed gold electrode and hematoxylin." Analytical Methods 9, no. 6 (2017): 966–73. http://dx.doi.org/10.1039/c6ay02853e.

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Messina, M. A., C. Meli, S. Conoci, and S. Petralia. "A facile method for urinary phenylalanine measurement on paper-based lab-on-chip for PKU therapy monitoring." Analyst 142, no. 24 (2017): 4629–32. http://dx.doi.org/10.1039/c7an01115f.

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de Castro, María José, Carmela de Lamas, Paula Sánchez-Pintos, Domingo González-Lamuño, and María Luz Couce. "Bone Status in Patients with Phenylketonuria: A Systematic Review." Nutrients 12, no. 7 (2020): 2154. http://dx.doi.org/10.3390/nu12072154.

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Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Although dietary and, in some cases, pharmacological treatment has been successful in preventing intellectual disability in PKU patients who are treated early, suboptimal outcomes have been reported, including bone mineral disease. In this systematic review, we summarize the available evidence on bone health in PKU patients, including data on bone mineral density (BMD) and bone turnover marker data. Data from cohort and cross-sectional studies of children and adults (up to 40 years of age) were obtained by searchin

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Ilgaz, Fatma, Alex Pinto, Hülya Gökmen-Özel, et al. "Long-Term Growth in Phenylketonuria: A Systematic Review and Meta-Analysis." Nutrients 11, no. 9 (2019): 2070. http://dx.doi.org/10.3390/nu11092070.

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There is an ongoing debate regarding the impact of phenylketonuria (PKU) and its treatment on growth. To date, evidence from studies is inconsistent, and data on the whole developmental period is limited. The primary aim of this systematic review was to investigate the effects of a phenylalanine (Phe)-restricted diet on long-term growth in patients with PKU. Four electronic databases were searched for articles published until September 2018. A total of 887 results were found, but only 13 articles met eligibility criteria. Only three studies had an adequate methodology for meta-analysis. Althou

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Zekanowsk, C., B. Perez, L. R. Desviat, W. Wiszniewski, and M. Ugarte. "In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene." Acta Biochimica Polonica 47, no. 2 (2000): 365–69. http://dx.doi.org/10.18388/abp.2000_4016.

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Phenylketonuria (PKU), an autosomal recessive disorder caused be a deficiency of hepatic phenylalanine hydroxylase (PAH), is clinically very heterogeneous. At the molecular level, more than 400 mutations in the PAH gene are known to date, which in different genotype combinations could account for biochemical and clinical variability of symptoms. In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.

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Bykova, S. T., T. G. Kalinina, T. V. Bushueva, and T. E. Borovik. "Methodological aspects of the use of dry components of chicken eggs for feeding children with phenylketonuria." Food systems 3, no. 4 (2021): 20–23. http://dx.doi.org/10.21323/2618-9771-2020-3-4-20-23.

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Currently, one of the most important tasks facing science and production is the creation of functional product technologies for use in different diets of the population in order to preserve and improve health, as well as reduce the risks and consequences of various diseases, including hereditary ones, such as phenylketonuria (PKU). The All-Russian Research Institute of Starch Products develops technologies for the production of low-protein starch-based products/semi-products enriched with functional ingredients and intended for therapeutic nutrition of patients with PKU. As part of the pilot p

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Verduci, Elvira, Maria Teresa Carbone, Laura Fiori, et al. "Creatine Levels in Patients with Phenylketonuria and Mild Hyperphenylalaninemia: A Pilot Study." Life 11, no. 5 (2021): 425. http://dx.doi.org/10.3390/life11050425.

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Background: Creatine (Cr) levels are strongly dependent on diets, including animal-derived proteins. Cr is an important metabolite as it represents a source of stored energy to support physical performance and potentially sustain positive effects such as improving memory or intelligence. This study was planned to assess Cr levels in PKU children adhering to a diet low in phenylalanine (Phe) content and compared with those of children with mild hyperphenylalaninemia (MHP) on a free diet. Methods: This retrospective pilot study analyzed Cr levels from Guthrie cards in 25 PKU and 35 MHP subjects.

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Drzymała-Czyż, Sławomira, Łukasz Kałużny, Patrycja Krzyżanowska-Jankowska, Dariusz Walkowiak, Renata Morzymas, and Jarosław Walkowiak. "Deficiency of long-chain polyunsaturated fatty acids in phenylketonuria: a cross-sectional study." Acta Biochimica Polonica 65, no. 2 (2018): 303–8. http://dx.doi.org/10.18388/abp.2018_2565.

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Deficiency of long-chain polyunsaturated fatty acids in phenylketonuria: a cross-sectional study Abstract The etiology of altered blood fatty acid (FA) profile in phenylketonuria (PKU) is understood only partially. We aimed to determine whether FAs deficiency is dependent on diet or metabolic disturbances. The study comprised 40 PKU patients (20 female, 20 male; aged 11 to 35 years; 12 children and 28 adults) and 40 healthy subjects (HS; 20 female, 20 male, aged 18 to 33 years). We assessed the profile of FAs (gas chromatography/mass spectrometry) and analyzed the 72-hour dietary recalls. The

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Pavlović, Sonja, and Maja Stojiljković. "Molecular Diagnosis of Phenylketonuria: From Defective Protein to Disease-Causing Gene Mutation." Journal of Medical Biochemistry 28, no. 4 (2009): 262–67. http://dx.doi.org/10.2478/v10011-009-0021-z.

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Molecular Diagnosis of Phenylketonuria: From Defective Protein to Disease-Causing Gene MutationPhenylketonuria (PKU) is the most common inborn error of amino acid metabolism, with an average incidence of 1/10000 in Caucasians. PKU is caused by more than 500 mutations in the phenylalanine hydroxylase gene (PAH) which result in phenylalanine hydroxylase (PAH) enzyme deficiency. Two approaches, in vitro expression analysis of mutant PAH and genotype-phenotype correlation study, are used for the assessment of severity ofPAHmutations. It has been shown that there is a significant correlation betwee

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Woolf, Louis I., and John Adams. "The Early History of PKU." International Journal of Neonatal Screening 6, no. 3 (2020): 59. http://dx.doi.org/10.3390/ijns6030059.

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The story of phenylketonuria (PKU) started in 1934 with Asbjørn Følling’s examination of two mentally retarded siblings from a Norwegian family. However, if their mother had not been so persistent in her search for somebody who could give her a reason why both her children were retarded, Asbjørn Følling’s name might never have been associated with PKU and surely the history of PKU would have started differently. In the short review below, the authors give a partly personal and therefore rare account of the early history of PKU, its treatment and the start of neonatal screening. Prof. Woolf is

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Ford, Suzanne, Mike O'Driscoll, and Anita MacDonald. "Living with Phenylketonuria: Lessons from the PKU community." Molecular Genetics and Metabolism Reports 17 (December 2018): 57–63. http://dx.doi.org/10.1016/j.ymgmr.2018.10.002.

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38

Strisciuglio, Pietro, and Daniela Concolino. "New Strategies for the Treatment of Phenylketonuria (PKU)." Metabolites 4, no. 4 (2014): 1007–17. http://dx.doi.org/10.3390/metabo4041007.

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Alptekin, Ismail Mucahit, Nevra Koc, Mehmet Gunduz, and Funda Pinar Cakiroglu. "The impact of phenylketonuria on PKU patients’ quality of life: Using of the phenylketonuria-quality of life (PKU-QOL) questionnaires." Clinical Nutrition ESPEN 27 (October 2018): 79–85. http://dx.doi.org/10.1016/j.clnesp.2018.06.005.

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40

Boot, E., C. E. M. Hollak, S. C. J. Huijbregts, et al. "Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria." Psychological Medicine 47, no. 16 (2017): 2854–65. http://dx.doi.org/10.1017/s0033291717001398.

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BackgroundPhenylketonuria (PKU), a genetic metabolic disorder that is characterized by the inability to convert phenylalanine to tyrosine, leads to severe intellectual disability and other cerebral complications if left untreated. Dietary treatment, initiated soon after birth, prevents most brain-related complications. A leading hypothesis postulates that a shortage of brain monoamines may be associated with neurocognitive deficits that are observable even in early-treated PKU. However, there is a paucity of evidence as yet for this hypothesis.MethodsWe therefore assessed in vivo striatal dopa

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Payne, Mary Say, Benjamin Lyons Brown, Jayaraman Rao, and Bryan Rankin Payne. "Treatment of Phenylketonuria-associated Tremor with Deep Brain Stimulation: Case Report." Neurosurgery 56, no. 4 (2005): E868. http://dx.doi.org/10.1227/01.neu.0000156492.99035.ee.

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Abstract OBJECTIVE AND IMPORTANCE: Phenylketonuria (PKU) is an inborn error of metabolism that causes severe neurological impairment, despite dietary treatment. We present a case of PKU-induced cerebellar tremor treated with deep brain stimulation. There have been no previously reported cases of a patient with a PKU tremor treated with deep brain stimulation. CLINICAL PRESENTATION: A 36-year-old male patient with PKU presented with signs of cerebellar disease including dysmetria, resting tremor, and intention tremor in the left upper extremity. INTERVENTION: A deep brain stimulation electrode

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Harding, Cary O. "Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU)." Molecular Frontiers Journal 03, no. 02 (2019): 110–21. http://dx.doi.org/10.1142/s2529732519400145.

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Phenylketonuria (PKU) due to recessively inherited phenylalanine hydroxylase (PAH) deficiency is among the most common inborn errors of metabolism. Dietary therapy begun early in infancy prevents the major manifestations of the disease but shortcomings to treatment continue to exist including lifelong commitment to a complicated and unpalatable diet, poor adherence to diet in adolescence and adulthood, and consequently a range of unsatisfactory outcomes, including neuropsychiatric disorders, frequently develop. Novel treatments that do not strictly depend upon dietary protein restriction are a

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WHITE, DESIRÉE A., MARSHA J. NORTZ, TAMMY MANDERNACH, KATHLEEN HUNTINGTON, and ROBERT D. STEINER. "Age-related working memory impairments in children with prefrontal dysfunction associated with phenylketonuria." Journal of the International Neuropsychological Society 8, no. 1 (2002): 1–11. http://dx.doi.org/10.1017/s135561770102001x.

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The prefrontal cortex of the brain has been shown to play a crucial role in working memory, and age-related changes in prefrontal function may contribute to the improvements in working memory that are observed during childhood. We examined the developmental trajectory of working memory in school-age children with early-treated phenylketonuria (PKU), a metabolic disorder that results in prefrontal dysfunction. Using a recognition procedure, we evaluated working memory for letters, abstract objects, and spatial locations in 20 children with PKU and 20 typically developing control children. Child

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Stojiljkovic, Maja, Ana Stevanovic, Maja Djordjevic, et al. "Mutations in the PAH gene: A Tool for population genetics study." Archives of Biological Sciences 59, no. 3 (2007): 161–67. http://dx.doi.org/10.2298/abs0703161s.

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Phenylketonuria (PKU), an inborn error of metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene. In the Serbian population, 19 different PAH mutations have been identified. We used PAH mutations as molecular markers for population genetics study. The low homozygosity value of the PAH gene (0.10) indicates that PKU in Serbia is heterogeneous, reflecting numerous migrations throughout Southeast Europe. The strategy for molecular diagnostics of PKU was designed accordingly. To elucidate the origin of the most common (L48S) PKU mutation in Serbia, we performed haplotype an

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Mortazavi, Zahra, Leili Tapak, Saideh Sadat Mortazavi, and Minoo Dabiri Golchin. "Health-Related Quality of Life of Mothers of Children With Phenylketonuria." Caspian Journal of Neurological Sciences 6, no. 3 (2020): 156–63. http://dx.doi.org/10.32598/cjns.6.22.4.

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Background: Quality of life is one of the pivotal notions of the World Health Organization’s perspective. Regarding the complications of Phenylketonuria (PKU) disease in children, it seems that this disease affects the quality of life of these mothers. Objectives: Investigating the quality of life of mothers with PKU children and to compare it with that of mothers of normal children. Materials & Methods: This case-control study was conducted on 65 mothers with PKU children and 122 mothers with normal children in Hamadan City, Iran, in 2018 (selected randomly from the general population). F

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El-Metwally, Ashraf, Lujane Yousef Al-Ahaidib, Alaa Ayman Sunqurah, et al. "The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review." BioMed Research International 2018 (2018): 1–12. http://dx.doi.org/10.1155/2018/7697210.

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Background/Objectives. This paper seeks to identify the prevalence of Phenylketonuria (PKU) in Arab countries, Turkey, and Iran. The study reviewed the existence of comprehensive national newborn screening programs and reported consanguinity rates. Methods. A computer based literature search was conducted using relevant keywords to retrieve studies conducted on PKU. A total of 34 articles were included. Prevalence was categorized based on the type of screening method used for PKU diagnoses. Results. The prevalence of classical PKU diagnosed through a comprehensive national newborn screening pr

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van Vliet, Kimber, Iris L. Rodenburg, Willem G. van Ginkel, et al. "Biomarkers of Micronutrients in Regular Follow-Up for Tyrosinemia Type 1 and Phenylketonuria Patients." Nutrients 11, no. 9 (2019): 2011. http://dx.doi.org/10.3390/nu11092011.

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Phenylketonuria (PKU) is treated with dietary restrictions and sometimes tetrahydrobiopterin (BH4). PKU patients are at risk for developing micronutrient deficiencies, such as vitamin B12 and folic acid, likely due to their diet. Tyrosinemia type 1 (TT1) is similar to PKU in both pathogenesis and treatment. TT1 patients follow a similar diet, but nutritional deficiencies have not been investigated yet. In this retrospective study, biomarkers of micronutrients in TT1 and PKU patients were investigated and outcomes were correlated to dietary intake and anthropometric measurements from regular fo

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Landvogt, Christian, Eugen Mengel, Peter Bartenstein, et al. "Reduced Cerebral Fluoro-l-Dopamine Uptake in Adult Patients Suffering from Phenylketonuria." Journal of Cerebral Blood Flow & Metabolism 28, no. 4 (2007): 824–31. http://dx.doi.org/10.1038/sj.jcbfm.9600571.

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Deficiency of phenylalanine hydroxylase activity in phenylketonuria (PKU) causes an excess of phenylalanine (Phe) throughout the body, predicting impaired synthesis of catecholamines in the brain. To test this hypothesis, we used positron emission tomography (PET) to measure the utilization of 6-[18F]fluoro-l-dopamine (FDOPA) in the brain of adult patients suffering from PKU and in healthy controls. Dynamic 2-h long FDOPA emission recordings were obtained in seven adult PKU patients (five females, two males; age: 21 to 27 years) with elevated serum Phe levels, but lacking neurologic deficits.

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Möller, Harald E., Josef Weglage, Dirk Wiedermann, and Kurt Ullrich. "Blood—Brain Barrier Phenylalanine Transport and Individual Vulnerability in Phenylketonuria." Journal of Cerebral Blood Flow & Metabolism 18, no. 11 (1998): 1184–91. http://dx.doi.org/10.1097/00004647-199811000-00004.

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In vivo nuclear magnetic resonance spectroscopy can be used to measure intracerebral phenylalanine (Phe) concentrations in patients with phenylketonuria (PKU). Stationary levels, obtained under free nutrition, as well as time courses after an oral Phe load (100 mg/kg) were investigated in 11 PKU patients and were correlated with the individual clinical outcome. At blood levels around 1.2 mmol/L, brain Phe was 0.41 to 0.73 mmol/L in clinically “typical” patients, but less than 0.15 mmol/L in three untreated, normally intelligent, adult women. Kinetic investigations revealed higher transport Mic

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Porta, Francesco, Sara Giorda, Alberto Ponzone, and Marco Spada. "Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria." Journal of Pediatric Endocrinology and Metabolism 33, no. 12 (2020): 1519–23. http://dx.doi.org/10.1515/jpem-2020-0319.

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AbstractObjectivesPhenylalanine (Phe) hydroxylase (PAH) deficiency leads to hyperphenylalaninemia (HPA) and tyrosine (Tyr) depletion. We investigated Tyr homeostasis in patients with PAH deficiency and the effect of a slow-release amino acids therapy in phenylketonuria (PKU).MethodsWe performed four complementary investigations: (1) Tyr concentrations were monitored in 114 patients (10.6 ± 11.9 years) with PKU on dietary treatment supplemented with traditional amino acid formulations (n=52, 1175 samples) or non-PKU HPA on a free diet (n=62, 430 samples); (2) Tyr metabolism in PKU was quantitat

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