ArticleMolecular genetics and metabolism reports2020
Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion.Journal of neurology · 2023Pooled it
- Article
- Current state of the treatment landscape of phenylketonuria.Orphanet journal of rare diseases · 2025Review
- The organizational dimension in rare and complex diseases care management: an application of RarERN PathBMC health services research · 2025Article
- Our lives with PKU: German patient voices - "Nothing about us without us".Molecular genetics and metabolism reports · 2025Article
- Adults with Phenylketonuria have suboptimal bone mineral density apart from vitamin D and calcium sufficiency.Frontiers in endocrinology · 2025Article
- The challenge of adults with phenylketonuria who have been lost to care; a single center's attempt to reach those diagnosed with PKU over 60 years of newborn screening.Molecular genetics and metabolism reports · 2024Article
- Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?Nutrients · 2024Article
- Poor adherence during adolescence is a risk factor for becoming lost-to-follow-up in patients with phenylketonuria.Molecular genetics and metabolism reports · 2024Article
- Post-discharge follow-up of patients with spine trauma in the National Spinal Cord Injury Registry of Iran during the COVID-19 pandemic: Challenges and lessons learned.Chinese journal of traumatology = Zhonghua chuang shang za zhi · 2024Observational
- Adult PKU Clinics in the UK-Users' Experiences and Perspectives.Nutrients · 2023Article
- Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria.Nutrients · 2023Article
- Primary carnitine deficiency is a life-long disease.JIMD reports · 2022Article
- Health Care Transition From Pediatric- to Adult-Focused Care in X-linked Hypophosphatemia: Expert Consensus.The Journal of clinical endocrinology and metabolism · 2022Article
- Article
- Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia.Healthcare (Basel, Switzerland) · 2021Article
- Urine Phenylacetylglutamine Determination in Patients with Hyperphenylalaninemia.Journal of clinical medicine · 2021Article
- Treatment adherence in tyrosinemia type 1 patients.Orphanet journal of rare diseases · 2021Observational
- PKU and COVID19: How the pandemic changed metabolic control.Molecular genetics and metabolism reports · 2021Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPhenylketonuria (PKU) is a rare autosomal recessive disorder caused by mutations in the gene encoding phenylalanine hydroxylase, an enzyme that converts phenylalanine to tyrosine. Untreated, PKU is characterized by a range of neuropsychological and neurocognitive impairments. Due to ubiquitous newborn genetic screening programs, treatment for PKU can be commenced shortly after birth and can prevent many of the severe manifestations of the disease. However, lifelong management is critical for patients with PKU as high levels of phenylalanine are neurotoxic. As for all chronic diseases, long-term management can be challenging and most adult patients with PKU become lost to follow-up (LTFU). A survey of PKU clinics across the United States and a multidisciplinary Expert Meeting were conducted to develop best practices to engage LTFU patients with PKU.
resultsWe defined LTFU patients with PKU as "patients with no contact with the clinic for at least 2 consecutive years." Combining the results from our survey and our discussion at the Expert Meeting, we have prepared six best practice recommendations to engage LTFU patients with PKU: 1) Ensure patients are aware of the current treatment guidelines for PKU; 2) Communicate to patients any new treatment and diet options as they become available for PKU; 3) Consider the neuropsychological and neurocognitive aspects of PKU; 4) Prioritize motivated LTFU patients; 5) Explore new approaches of outreach to LTFU patients; and 6) Formalize approaches to track and/or identify PKU patients.
conclusionWe strongly advocate the importance of engaging LTFU patients with PKU and encourage implementation of our best practice recommendations. Although it takes time and effort to engage LTFU patients, we believe that clinics are capable of supporting this significant patient group.
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