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Research paper thumbnail of Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach

Molecular Genetics and Metabolism, 2020

This is a PDF file of an article that has undergone enhancements after acceptance, such as the ad... more This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

Research paper thumbnail of Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach

Molecular Genetics and Metabolism, 2019

Similar to other inherited metabolic disorders (IMD), PROP manifests as a spectrum of phenotypes.... more Similar to other inherited metabolic disorders (IMD), PROP manifests as a spectrum of phenotypes. Neonatal onset PROP is characterized by poor feeding, vomiting, and fatigue in the first days of life in a previously healthy infant, and if untreated, may be followed by lethargy, seizures, coma, and death. Neonatal onset PROP is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia and cytopenia. Late onset PROP, in older children and adults with milder phenotypes, is less common, and may present with developmental regression, chronic vomiting, protein intolerance, failure to thrive, hypotonia, and occasionally basal ganglia infarction which may result in dystonia and choreoathetosis, and cardiomyopathy (Chapman, Gropman, et al., 2012). Metabolically unstable individuals can have an acute decompensation that resembles the neonatal

Research paper thumbnail of 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Molecular Genetics and Metabolism, 2016

There is limited understanding of relationships between genotype, phenotype and other conditions ... more There is limited understanding of relationships between genotype, phenotype and other conditions contributing to health in neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) identified through newborn screening. Methods: Retrospective analysis of comprehensive data from a cohort of 221 newborn-screened subjects identified as affected with MCADD in the Inborn Errors of Metabolism-Information System (IBEM-IS), a long term follow-up database of the Inborn Errors of Metabolism Collaborative, was performed. Results: The average age at notification of first newborn screen results to primary care or metabolic providers was 7.45 days. The average octanoylcarnitine (C8) value on first newborn screen was 11.2 μmol/L (median 8.6, range 0.36-43.91). A higher C8 level correlated with an earlier first subspecialty visit. Subjects with low birth weight had significantly lower C8 values. Significantly higher C8 values were found in symptomatic newborns, in newborns with abnormal lab testing in addition to newborn screening and/or diagnostic tests, and in subjects homozygous for the c.985AN G ACADM gene mutation or compound heterozygous for the c.985A NG mutation and deletions or other known highly deleterious mutations. Subjects with neonatal symptoms, or neonatal abnormal labs, or neonatal triggers were more likely to have at least one copy of the severe c.985ANG ACADM gene mutation. C8 and genotype category were significant predictors of the likelihood of having neonatal symptoms. Neonates with select triggers were more likely to have symptoms and laboratory abnormalities. Conclusions: This collaborative study is the first in the United States to describe health associations of a large cohort of newborn-screened neonates identified as affected with MCADD. The IBEM-IS has utility as a platform to better understand the characteristics of individuals with newborn-screened conditions and their follow-up interactions with the health system.

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

Molecular Genetics and Metabolism, 2016

In 2014, recommendations for the nutrition management of phenylalanine hydroxylase deficiency wer... more In 2014, recommendations for the nutrition management of phenylalanine hydroxylase deficiency were published as a companion to the concurrently published American College of Medical Genetics and Genomics guideline for the medical treatment of phenylketonuria (PKU). These were developed primarily from a summary of findings from the PKU scientific review conference sponsored by the National Institutes of Health and Agency for Healthcare Research & Quality along with additional systematic literature review. Since that time, the Genetic Metabolic Dietitians International and the Southeast Regional Newborn Screening and Genetics Collaborative have partnered to create a web-based technology platform for the update and development of nutrition management guidelines for inherited metabolic disorders. The purpose of this PKU guideline is to establish harmonization in treatment and monitoring, to guide the integration of nutrition therapy in the medical management of PKU, and to improve outcomes (nutritional, cognitive, and developmental) for individuals with PKU in all life stages while reducing associated medical, educational, and social costs. Six research questions critical to PKU nutrition management were formulated to support guideline development: Review, critical appraisal, and abstraction of peer-reviewed studies and unpublished practice literature, along with expert Delphi survey feedback, nominal group process, and external review from metabolic physicians and dietitians were utilized for development of recommendations relevant to each question. Recommendations address nutrient intake, including updated protein requirements, optimal blood phenylalanine concentrations, nutrition interventions, monitoring parameters specific to life stages, adjunct therapies, and pregnancy and lactation. Recommendations were graded using a rigorous system derived from the Academy of Nutrition and Dietetics. These guidelines, updated utilizing a thorough and systematic approach to literature analysis and national consensus process, are now easily accessible to the global community via the newly developed digital platform. For additional details on specific topics, readers are encouraged to review materials on the online portal: https://GMDI.org/.

Research paper thumbnail of Policy implications related to insufficient medical coverage for medical foods, modified low-protein food and nutritional supplements for patients with heritable disorders

Research paper thumbnail of The role of evidence analysts in creating nutrition management guidelines for inherited metabolic disorders

Journal of Evaluation in Clinical Practice, 2015

Evidence and consensus-based guidelines for nutrition management of maple syrup urine disease (MS... more Evidence and consensus-based guidelines for nutrition management of maple syrup urine disease (MSUD) were developed as part of a project to create nutrition guidelines for inherited metabolic disorders identified through newborn screening. The objective of this study was to describe and evaluate the role of evidence analysts in the systematic review phase of guideline development to improve quality of process and output and inform future guideline development projects. Recruitment, training and output of evidence analysts were documented throughout the MSUD project. The role of analysts was to critically review and rate the scientific quality of published literature and abstract pertinent information using quality checklists and abstraction worksheets. A secure, web-based application was developed to standardize the process and establish permanent documentation. Analysts completed a post-project survey on perceptions of their role, training and the evidence analysis process. Of 23 recruits, 65% (15) completed evidence analyst training; 73% of those (11) participated in the analysis of 98 literature articles. Analysts reviewed a median of four articles (range 1-16) with median productivity of 1.1 articles per month. All analysts surveyed (n = 9) understood their role and agreed that training was adequate; 100% agreed that analyst involvement was critical in developing guidelines for MSUD. Evidence analysts played a key role in appraising and abstracting evidence to develop nutrition guidelines for MSUD. With critical improvements to the process, particularly more stringent and systematic evaluation and documentation of analyst performance related to productivity and quality, we will continue to recruit, train and support evidence analysts in evidence-based guideline development projects.

Research paper thumbnail of Evaluation of performance metrics of TMS newborn screening in Georgia

Research paper thumbnail of Enhanced interpretation of newborn screening results without analyte cutoff values

Genetics in Medicine, 2012

Research paper thumbnail of Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach

Molecular Genetics and Metabolism, 2014

Inborn amino acidopathies Inborn errors of metabolism Inherited metabolic disorders In an effort ... more Inborn amino acidopathies Inborn errors of metabolism Inherited metabolic disorders In an effort to increase harmonization of care and enable outcome studies, the Genetic Metabolic Dietitians International (GMDI) and the Southeast Regional Newborn Screening and Genetics Collaborative (SERC) are partnering to develop nutrition management guidelines for inherited metabolic disorders (IMD) using a model combining both evidence-and consensus-based methodology. The first guideline to be completed is for maple syrup urine disease (MSUD). This report describes the methodology used in its development: formulation of five research questions; review, critical appraisal and abstraction of peer-reviewed studies and unpublished practice literature; and expert input through Delphi surveys and a nominal group process. This report includes the summary statements for each research question and the nutrition management recommendations they generated. Each recommendation is followed by a standardized rating based on the strength of the evidence and consensus used. The application of technology to build the infrastructure for this project allowed transparency during development of this guideline and will be a foundation for future guidelines. Online open access of the full, published guideline allows utilization by health care providers, researchers, and collaborators who advise, advocate and care for individuals with MSUD and their families. There will be future updates as warranted by developments in research and clinical practice.

Research paper thumbnail of Nutrition Management Guideline for Maple Syrup Urine Disease: An evidence- and consensus-based approach

Molecular Genetics and Metabolism, 2014

In an effort to increase harmonization of care and enable outcome studies, the Genetic Metabolic ... more In an effort to increase harmonization of care and enable outcome studies, the Genetic Metabolic Dietitians International (GMDI) and the Southeast Regional Newborn Screening and Genetics Collaborative (SERC) are partnering to develop nutrition management guidelines for inherited metabolic disorders (IMD) using a model combining both evidence-and consensus-based methodology. The first guideline to be completed is for maple syrup urine disease (MSUD). This report describes the methodology used in its development: formulation of five research questions; review, critical appraisal and abstraction of peer-reviewed studies and unpublished practice literature; and expert input through Delphi surveys and a nominal group process. This report includes the summary statements for each research question and the nutrition management recommendations they generated. Each recommendation is followed by a standardized rating based on the strength of the evidence and consensus used. The application of technology to build the infrastructure for this project allowed transparency during development of this guideline and will be a foundation for future guidelines. Online open access of the full, published guideline allows utilization by health care providers, researchers, and collaborators who advise, advocate and care for individuals with MSUD and their families. There will be future updates as warranted by developments in research and clinical practice.

Research paper thumbnail of Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach

Molecular Genetics and Metabolism, 2020

This is a PDF file of an article that has undergone enhancements after acceptance, such as the ad... more This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

Research paper thumbnail of Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach

Molecular Genetics and Metabolism, 2019

Similar to other inherited metabolic disorders (IMD), PROP manifests as a spectrum of phenotypes.... more Similar to other inherited metabolic disorders (IMD), PROP manifests as a spectrum of phenotypes. Neonatal onset PROP is characterized by poor feeding, vomiting, and fatigue in the first days of life in a previously healthy infant, and if untreated, may be followed by lethargy, seizures, coma, and death. Neonatal onset PROP is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia and cytopenia. Late onset PROP, in older children and adults with milder phenotypes, is less common, and may present with developmental regression, chronic vomiting, protein intolerance, failure to thrive, hypotonia, and occasionally basal ganglia infarction which may result in dystonia and choreoathetosis, and cardiomyopathy (Chapman, Gropman, et al., 2012). Metabolically unstable individuals can have an acute decompensation that resembles the neonatal

Research paper thumbnail of 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Molecular Genetics and Metabolism, 2016

There is limited understanding of relationships between genotype, phenotype and other conditions ... more There is limited understanding of relationships between genotype, phenotype and other conditions contributing to health in neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) identified through newborn screening. Methods: Retrospective analysis of comprehensive data from a cohort of 221 newborn-screened subjects identified as affected with MCADD in the Inborn Errors of Metabolism-Information System (IBEM-IS), a long term follow-up database of the Inborn Errors of Metabolism Collaborative, was performed. Results: The average age at notification of first newborn screen results to primary care or metabolic providers was 7.45 days. The average octanoylcarnitine (C8) value on first newborn screen was 11.2 μmol/L (median 8.6, range 0.36-43.91). A higher C8 level correlated with an earlier first subspecialty visit. Subjects with low birth weight had significantly lower C8 values. Significantly higher C8 values were found in symptomatic newborns, in newborns with abnormal lab testing in addition to newborn screening and/or diagnostic tests, and in subjects homozygous for the c.985AN G ACADM gene mutation or compound heterozygous for the c.985A NG mutation and deletions or other known highly deleterious mutations. Subjects with neonatal symptoms, or neonatal abnormal labs, or neonatal triggers were more likely to have at least one copy of the severe c.985ANG ACADM gene mutation. C8 and genotype category were significant predictors of the likelihood of having neonatal symptoms. Neonates with select triggers were more likely to have symptoms and laboratory abnormalities. Conclusions: This collaborative study is the first in the United States to describe health associations of a large cohort of newborn-screened neonates identified as affected with MCADD. The IBEM-IS has utility as a platform to better understand the characteristics of individuals with newborn-screened conditions and their follow-up interactions with the health system.

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

Molecular Genetics and Metabolism, 2016

In 2014, recommendations for the nutrition management of phenylalanine hydroxylase deficiency wer... more In 2014, recommendations for the nutrition management of phenylalanine hydroxylase deficiency were published as a companion to the concurrently published American College of Medical Genetics and Genomics guideline for the medical treatment of phenylketonuria (PKU). These were developed primarily from a summary of findings from the PKU scientific review conference sponsored by the National Institutes of Health and Agency for Healthcare Research & Quality along with additional systematic literature review. Since that time, the Genetic Metabolic Dietitians International and the Southeast Regional Newborn Screening and Genetics Collaborative have partnered to create a web-based technology platform for the update and development of nutrition management guidelines for inherited metabolic disorders. The purpose of this PKU guideline is to establish harmonization in treatment and monitoring, to guide the integration of nutrition therapy in the medical management of PKU, and to improve outcomes (nutritional, cognitive, and developmental) for individuals with PKU in all life stages while reducing associated medical, educational, and social costs. Six research questions critical to PKU nutrition management were formulated to support guideline development: Review, critical appraisal, and abstraction of peer-reviewed studies and unpublished practice literature, along with expert Delphi survey feedback, nominal group process, and external review from metabolic physicians and dietitians were utilized for development of recommendations relevant to each question. Recommendations address nutrient intake, including updated protein requirements, optimal blood phenylalanine concentrations, nutrition interventions, monitoring parameters specific to life stages, adjunct therapies, and pregnancy and lactation. Recommendations were graded using a rigorous system derived from the Academy of Nutrition and Dietetics. These guidelines, updated utilizing a thorough and systematic approach to literature analysis and national consensus process, are now easily accessible to the global community via the newly developed digital platform. For additional details on specific topics, readers are encouraged to review materials on the online portal: https://GMDI.org/.

Research paper thumbnail of Policy implications related to insufficient medical coverage for medical foods, modified low-protein food and nutritional supplements for patients with heritable disorders

Research paper thumbnail of The role of evidence analysts in creating nutrition management guidelines for inherited metabolic disorders

Journal of Evaluation in Clinical Practice, 2015

Evidence and consensus-based guidelines for nutrition management of maple syrup urine disease (MS... more Evidence and consensus-based guidelines for nutrition management of maple syrup urine disease (MSUD) were developed as part of a project to create nutrition guidelines for inherited metabolic disorders identified through newborn screening. The objective of this study was to describe and evaluate the role of evidence analysts in the systematic review phase of guideline development to improve quality of process and output and inform future guideline development projects. Recruitment, training and output of evidence analysts were documented throughout the MSUD project. The role of analysts was to critically review and rate the scientific quality of published literature and abstract pertinent information using quality checklists and abstraction worksheets. A secure, web-based application was developed to standardize the process and establish permanent documentation. Analysts completed a post-project survey on perceptions of their role, training and the evidence analysis process. Of 23 recruits, 65% (15) completed evidence analyst training; 73% of those (11) participated in the analysis of 98 literature articles. Analysts reviewed a median of four articles (range 1-16) with median productivity of 1.1 articles per month. All analysts surveyed (n = 9) understood their role and agreed that training was adequate; 100% agreed that analyst involvement was critical in developing guidelines for MSUD. Evidence analysts played a key role in appraising and abstracting evidence to develop nutrition guidelines for MSUD. With critical improvements to the process, particularly more stringent and systematic evaluation and documentation of analyst performance related to productivity and quality, we will continue to recruit, train and support evidence analysts in evidence-based guideline development projects.

Research paper thumbnail of Evaluation of performance metrics of TMS newborn screening in Georgia

Research paper thumbnail of Enhanced interpretation of newborn screening results without analyte cutoff values

Genetics in Medicine, 2012

Research paper thumbnail of Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach

Molecular Genetics and Metabolism, 2014

Inborn amino acidopathies Inborn errors of metabolism Inherited metabolic disorders In an effort ... more Inborn amino acidopathies Inborn errors of metabolism Inherited metabolic disorders In an effort to increase harmonization of care and enable outcome studies, the Genetic Metabolic Dietitians International (GMDI) and the Southeast Regional Newborn Screening and Genetics Collaborative (SERC) are partnering to develop nutrition management guidelines for inherited metabolic disorders (IMD) using a model combining both evidence-and consensus-based methodology. The first guideline to be completed is for maple syrup urine disease (MSUD). This report describes the methodology used in its development: formulation of five research questions; review, critical appraisal and abstraction of peer-reviewed studies and unpublished practice literature; and expert input through Delphi surveys and a nominal group process. This report includes the summary statements for each research question and the nutrition management recommendations they generated. Each recommendation is followed by a standardized rating based on the strength of the evidence and consensus used. The application of technology to build the infrastructure for this project allowed transparency during development of this guideline and will be a foundation for future guidelines. Online open access of the full, published guideline allows utilization by health care providers, researchers, and collaborators who advise, advocate and care for individuals with MSUD and their families. There will be future updates as warranted by developments in research and clinical practice.

Research paper thumbnail of Nutrition Management Guideline for Maple Syrup Urine Disease: An evidence- and consensus-based approach

Molecular Genetics and Metabolism, 2014

In an effort to increase harmonization of care and enable outcome studies, the Genetic Metabolic ... more In an effort to increase harmonization of care and enable outcome studies, the Genetic Metabolic Dietitians International (GMDI) and the Southeast Regional Newborn Screening and Genetics Collaborative (SERC) are partnering to develop nutrition management guidelines for inherited metabolic disorders (IMD) using a model combining both evidence-and consensus-based methodology. The first guideline to be completed is for maple syrup urine disease (MSUD). This report describes the methodology used in its development: formulation of five research questions; review, critical appraisal and abstraction of peer-reviewed studies and unpublished practice literature; and expert input through Delphi surveys and a nominal group process. This report includes the summary statements for each research question and the nutrition management recommendations they generated. Each recommendation is followed by a standardized rating based on the strength of the evidence and consensus used. The application of technology to build the infrastructure for this project allowed transparency during development of this guideline and will be a foundation for future guidelines. Online open access of the full, published guideline allows utilization by health care providers, researchers, and collaborators who advise, advocate and care for individuals with MSUD and their families. There will be future updates as warranted by developments in research and clinical practice.