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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(More)
The effectiveness of a phenylalanine-restricted diet to improve the outcome of individuals with phenylalanine hydroxylase deficiency (OMIM no. 261600) has been recognized since the first patients were treated 60 years ago. However, the treatment regime is complex, costly, and often difficult to maintain for the long term. Improvements and refinements in the(More)
New developments in the treatment and management of phenylketonuria (PKU) as well as advances in molecular testing have emerged since the National Institutes of Health 2000 PKU Consensus Statement was released. An NIH State-of-the-Science Conference was convened in 2012 to address new findings, particularly the use of the medication sapropterin to treat(More)
It is the position of the Academy of Nutrition and Dietetics that children ages 2 to 11 years should achieve optimal physical and cognitive development, maintain healthy weights, enjoy food, and reduce the risk of chronic disease through appropriate eating habits and participation in regular physical activity. Rapid increases in the prevalence of childhood(More)
All of the health care professions recognize that care of infants and children is best managed as a specialty area of practice. Nutrition plays a key role in normal growth and development. Appropriate nutrition care is vital adjuvant therapy for infants and children with acute or chronic illness. Provision of nutrition services in pediatric practice(More)
BACKGROUND 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(More)
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