These resources are intended for health care professionals who treat patients with inborn metabolic disorders.
Newborn Screening Protocols and Treatment Guidelines
Newborn Screening Protocols
The American College of Medical Genetics has formed a work group of professionals in the field of newborn screening, including metabolic experts from the New England Consortium of Metabolic Programs. This group has generated a comprehensive set of ACT Sheets (action sheets) and diagnostic Algorithms, that describe the short term actions a health care provider should take in the follow-up of an infant that has tested positive for a metabolic disorder, and the basic steps for determining final diagnosis.
The complete collection of Newborn Screening ACT Sheets and Algorithms is available on the website of the American College of Medical Genetics.
Nutrition Guidelines Project Developed by GMDI and SERN:
The Nutrition Management Guidelines were jointed developed by the Genetic Metabolic Dietitians International (GMDI) and the Southeast Newborn Screening and Genetics Network – HRSA Region 3 (SERN). Guidelines were developed using a multi-step process known as the Delphi-Nominal Group-Delphi-Field Testing (DNDF) methodology.
Current guidelines are available for Maple Syrup Urine Disease, Propionic Acidemia, Phenylketonuria and Very Long Chain Acyl-CoA Dehydrogenase Deficiency.
Training Resources for Metabolic Clinicians and Trainees
Met Ed Nutrition Training Online Resource (MEntor)
Met Ed is a non-profit organization specializing in healthcare education for clinicians, patients, families and caregivers. MENTOR includes free online courses on the nutrition management for a variety of inborn errors of metabolism.
Metabolic University
Metabolic University is an interactive, didactic program designed to provide training to dietitians and other medical professionals working in the field of inborn errors of metabolism.
simd north american metabolic academy
The Academy will provide a broad overview of inborn errors of metabolism focusing on the clinical diagnosis and treatment of these disorders. A renowned faculty will guide you through seminars on disease recognition and diagnosis, workshops to integrate understanding of normal metabolism and pathophysiology, and case-based workshops on diagnosis and management. NAMA is presented by the Society for Inherited Metabolic Disorders (SIMD).
VMP Genetics
“VMP Genetics provides the diagnosis and management of children and adults with rare genetic disorders. Please check back often as we roll out updates to our new website.”
Regional Metabolic Centers:
Metabolic Clinics and Centers in the New England states: Connecticut, Maine, Massachusetts, Rhode Island, and Vermont.