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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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29 hot topic(s) found with the query "Phenylketonuria"

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)
(Posted: May 28, 2024 8AM)

From the abstract: "Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. "

Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health.
Rachel Sundstrom et al. J Community Genet 2023 10 (Posted: Oct 07, 2023 8AM)

From the abstract: " Phenylketonuria (PKU) is a metabolic condition that requires treatment for life. There is increasing evidence that chronic illnesses put strain on relationships and marriages. However, no studies have examined the unique factors that metabolic conditions have on affected individuals and their relationship satisfaction. We surveyed a population of adult patients with PKU and assessed how management, treatment, and lifestyle factors impact their relationship satisfaction."

Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG)
AD Adams et al, Genetics in Medicine, July 20, 2023 (Posted: Jul 20, 2023 7AM)

A total of 350 studies were included. Risk of bias was moderate. Lower Phe was consistently associated with better outcomes. Achieving Phe = 360 µmol/L before conception substantially lowered the risk of negative effect to offspring in pregnant individuals (odds ratio = 0.07, 95% CI = 0.04-0.14; P < .0001). Adverse events due to pharmacologic treatment were common, but medication reduced Phe levels, enabling dietary liberalization. Reduction of Phe levels to =360 µmol/L through diet or medication represents effective interventions to treat PAH deficiency.

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
N Longo et al, Genetics in Medicine, December 14, 2018 (Posted: Dec 14, 2018 1PM)

Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria.
Levy Harvey L et al. Molecular genetics and metabolism 2018 Aug (4) 223-229 (Posted: Dec 03, 2018 9AM)

Can untreated PKU patients escape from intellectual disability? A systematic review.
van Vliet Danique et al. Orphanet journal of rare diseases 2018 Aug (1) 149 (Posted: Dec 03, 2018 9AM)

Scientists Are Retooling Bacteria to Cure Disease By manipulating DNA, researchers are trying to create microbes that, once ingested, work to treat a rare genetic condition —a milestone in synthetic biology.
C Zimmer, NY Times, September 4, 2018 (Posted: Sep 04, 2018 9AM)

Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic Review.
Medford Emma et al. JIMD reports 2018 107-116 (Posted: Jun 14, 2018 9AM)

New Treatment for Phenylketonuria (PKU) Clears Brain Fog
R Lewis, PLOS Blogs, June 14, 2018 (Posted: Jun 14, 2018 9AM)

Development of the US English version of the phenylketonuria - quality of life (PKU-QOL) questionnaire.
Jurecki Elaina et al. Health and quality of life outcomes 2017 Mar 15(1) 46 (Posted: Apr 19, 2017 8AM)

Adherence to clinic recommendations among patients with phenylketonuria in the United States.
Jurecki E R et al. Molecular genetics and metabolism 2017 Jan (Posted: Feb 08, 2017 9AM)

Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria.
Cazzorla Chiara et al. BMC Public Health 2014 1243 (Posted: May 03, 2015 4PM)

Management of adult patients with phenylketonuria: survey results from 24 countries.
Trefz Friedrich K et al. Eur. J. Pediatr. 2015 Jan (1) 119-27 (Posted: May 03, 2015 4PM)

A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria.
Burton B et al. Mol. Genet. Metab. 2015 Mar (3) 415-24 (Posted: May 03, 2015 4PM)

Alternative therapies to address the unmet medical needs of patients with phenylketonuria.
Blau Nenad et al. Expert Opin Pharmacother 2015 Apr (6) 791-800 (Posted: May 03, 2015 4PM)

Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics.
Waisbren S E et al. JIMD Rep 2015 Feb 25. (Posted: May 03, 2015 4PM)

Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.
Scala Iris et al. Orphanet J Rare Dis 2015 (1) 14 (Posted: May 03, 2015 4PM)

Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach.
Aguiar A et al. Mol. Genet. Metab. 2015 Mar 26. (Posted: May 03, 2015 4PM)

Parental strategies to help children with phenylketonuria (PKU) cope with feeling different.
Zwiesele Sheila et al. Am. J. Med. Genet. A 2015 Apr 29. (Posted: May 03, 2015 4PM)

A systematic review of bone mineral density and fractures in phenylketonuria.
Hansen Karen E et al. J. Inherit. Metab. Dis. 2014 Nov (6) 875-80 (Posted: May 03, 2015 4PM)

New Strategies for the Treatment of Phenylketonuria (PKU).
Strisciuglio Pietro et al. Metabolites 2014 (4) 1007-17 (Posted: May 03, 2015 4PM)

Protein substitute for children and adults with phenylketonuria.
Yi Sarah H L et al. Cochrane Database Syst Rev 2015 CD004731 (Posted: May 03, 2015 4PM)

Bone health in phenylketonuria: a systematic review and meta-analysis.
Demirdas Serwet et al. Orphanet J Rare Dis 2015 (1) 17 (Posted: May 03, 2015 4PM)

Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Camp Kathryn M et al. Mol. Genet. Metab. 2014 Jun (2) 87-122 (Posted: May 03, 2015 4PM)

National Institutes of Health (NIH) review of evidence in phenylalanine hydroxylase deficiency (phenylketonuria) and recommendations/guidelines for therapy from the American College of Medical Genetics (ACMG) and Genetics Metabolic Dietitians International (GMDI).
Greene Carol L et al. Mol. Genet. Metab. 2014 Jun (2) 85-6 (Posted: May 03, 2015 4PM)

CDC Information: Importance of Newborn Screening
Brand (Posted: Feb 25, 2015 0PM)

CDC Newborn Screening Quality Assurance Program includes phenylketonuria
Brand (Posted: Feb 25, 2015 0PM)

Phenylketonuria
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Mild phenylketonuria
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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