Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach

Singh, Rani H.; Cunningham, Amy; Mofidi, Shideh; Douglas, Teresa D.; Frazier, Dianne M.; Hook, Debra Geary; Jeffers, Laura A.; McCune, Helen; Moseley, Kathryn; Ogata, Beth N.; Pendyal, Surekha; Skrabal, J; Splett, Patricia L.; Stembridge, Adrya; Wessel, Ann; Rohr, Frances J.

doi:10.1016/j.ymgme.2016.04.008

Cited by 84 publications

(113 citation statements)

References 102 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…There are similar criteria published by Singh and colleagues 21 regarding nutrition management guidelines for PKU, specifically in relation to metabolic control goals, critical nutrients intake, and parameters to start treatment.…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, unlike the guidelines published by Singh and colleagues, we supplement children with calcium, iron, and zinc, to comply with micronutrient recommendations. 21 In recent years, it has been shown that PKU treatment should be for life, and new nutrition management guidelines, emphasize this, exposing the neurological changes that occur in older children and adults without treatment. 21 Therefore in Chile, we have developed various strategies to promote selfcare and educate patients and families to achieve compliance with lifelong treatment; this includes the creation of educational workshops for adolescents and adults, developing applications for patients and parents to access PHE levels and for calculating daily PHE.…”

Section: Discussionmentioning

confidence: 99%

“…21 In recent years, it has been shown that PKU treatment should be for life, and new nutrition management guidelines, emphasize this, exposing the neurological changes that occur in older children and adults without treatment. 21 Therefore in Chile, we have developed various strategies to promote selfcare and educate patients and families to achieve compliance with lifelong treatment; this includes the creation of educational workshops for adolescents and adults, developing applications for patients and parents to access PHE levels and for calculating daily PHE. In addition, with the extension of the national program of special formulas provided by the ministry of health, it was possible to reengage the majority of patients older than 18 years who had left treatment.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Chilean Nutrition Management Protocol for Patients With Phenylketonuria

Castro

Hamilton

Cornejo

2017

Journal of Inborn Errors of Metabolism and Screening

View full text Add to dashboard Cite

Since neonatal screening and early nutritional treatment began, it has been possible to reverse the neurological damage that phenylketonuria (PKU) causes. Scientific evidence gathered over more than 50 years on the monitoring of individuals with PKU indicates that a phenylalanine level of about 6 mg/dL (360 mmol/L) is ideal and points to the necessity of starting a long-term phenylalanine-restricted diet in which blood phenylalanine level should stay between 2 and 6 mg/dL (120-360 mmol/L). This article aims to establish the general basis for proper monitoring of people with PKU and provide a useful tool for clinicians overseeing treatment. We hope to establish similar criteria throughout Latin America and create a uniform protocol in order to have comparative monitoring results for the region.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Chilean Nutrition Management Protocol for Patients With Phenylketonuria

Castro

Hamilton

Cornejo

2017

Journal of Inborn Errors of Metabolism and Screening

View full text Add to dashboard Cite

show abstract

“…NBS Connect data can be used to evaluate these recommendations in actual patients, revealing the gap between evidence-based recommendations and actual clinical care. [17]…”

Section: Discussionmentioning

confidence: 99%

Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders

Osara

Coakley

Devarajan

et al. 2017

Orphanet J Rare Dis

Self Cite

View full text Add to dashboard Cite

BackgroundNewborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. NBS Connect was launched in 2012 by Emory University after years of planning and grassroots work by professionals, consumers, and industry. Individuals with phenylketonuria (PKU), maple syrup urine disease (MSUD) or tyrosinemia (TYR) have been recruited through distribution of outreach materials, presentations at parent organization meetings and direct recruitment at clinic appointments. Participants complete online profiles generating data on diagnosis, treatment, symptoms, outcomes, barriers to care, and quality of life. Resources such as education materials, information on the latest research and clinical trials, recipes, interactive health tracking systems, and professional support tools are described. In addition, to examine the ability of NBS Connect to generate data that guides hypothesis-driven research, data pertaining to age at diagnosis, bone health, and skin conditions in individuals with PKU were assessed. The objective of this paper is to describe the development of NBS Connect and highlight its data, resources and research contributions.ResultsIn September 2016, NBS Connect had 442 registered participants: 314 (71%) individuals with PKU, 68 (15%) with MSUD, 20 (5%) with TYR, and 40 (9%) with other disorders on the NBS panel. Age at diagnosis was less than 4 weeks in 285 (89%) of 319 respondents to this question and between 1 month and 14 years in 29 (9%) individuals. Of 216 respondents with PKU, 33 (15%) had a DXA scan in the past year. Of 217 respondents with PKU, 99 (46%) reported at least one skin condition.ConclusionsNBS Connect was built and refined with feedback from all stakeholders, including individuals with inherited metabolic disorders. Based on patient-reported data, future studies can be initiated to test hypotheses such as the relationship between PKU and skin conditions. Patient registries like NBS Connect can inform hypothesis-driven research, contributing to knowledge generation and following the current trend in moving from traditional medicine towards evidence-based practice. NBS Connect will help clinicians understand long-term outcomes of rare disorders, contributing to better patient care and quality of life.

show abstract

“…Available data also show that positive outcomes can be expected by maintaining lifelong blood Phe concentrations between 2 and 6 mg/dL (120–360 μmol/L) which is the target for current treatment guidelines in North America (Singh et al [23], Singh [15], Vockley [18]). The European guidelines recommend Phe concentrations between 2 and 6 mg/dL (120–360 μmol/L) until 12 years of age and upper targeted Phe concentrations of 10 mg/dL (600 μmol/L) for all individuals older than 12 years (Van Spronsen, van Wegberg et al [16]).…”

Section: Introductionmentioning

confidence: 99%

First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU

Parra

García

Hamilton

et al. 2017

Molecular Genetics and Metabolism Reports

View full text Add to dashboard Cite

There is a consensus on the importance of early and life-long treatment for PKU patients. Still, differences exist on target blood phenylalanine (Phe) concentrations for children with PKU in different countries and treatment centers. For the first time, long-term metabolic control and child development and cognitive functioning is compared between children with mean phenylalanine concentrations under 240 μmol/L (group A), between 240 and 360 μmol/L (group B) or over 360 μmol/L (group C) during their first year of life. METHODS: 70 patients diagnosed with PKU through neonatal screening with Phe > 900 μmol/L, were divided into 3 groups: A, B and C, according to mean Phe concentrations and standard deviation (SD). Metabolic control during childhood, psychomotor development and IQ were compared. RESULTS: In group A, Phe was maintained within the recommended range until 6 years of age, in Group B, until 3 years of age, and in group C, Phe was always over the recommended range. No significant differences were found between the three groups in mental development index (MDI) and motor development index (PDI) scores at 12, 24, and 30 months of age, but group C had the lowest scores on MDI at all age periods. At preschool and school age, IQ was higher in group A compared to group C. CONCLUSION: Results show that mean blood Phe concentrations between 120 and 240 μmol/L during first year of life have a positive impact in metabolic control and cognitive functioning during childhood.

show abstract

Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach

Cited by 84 publications

References 102 publications

Chilean Nutrition Management Protocol for Patients With Phenylketonuria

Chilean Nutrition Management Protocol for Patients With Phenylketonuria

Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders

First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU

Contact Info

Product

Resources

About