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For Professionals

Resources and information for professionals involved in the identification, treatment, and study of inborn errors of metabolism —

Acute Illness Protocols
Guidelines for the treament of newborns considered to be at risk for serious metabolic defects, including urea cycle disorders, fatty acid oxidation disorders, and organic acid disorders. Developed by physicians in the division of Medicine and Genetics at Boston Children’s Hospital.

newborn_nurse_screening_smNewborn Screening Protocols
A comprehensive set of ACT Sheets (action sheets) and diagnostic Algorithms which 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.

Health Care Resources
Resources for health care professionals who treat infant, child, or adult patients with inborn metabolic disorders. Some of the materials are directly for professionals, and others are meant for distribution to patients and familes.

Teachers’ Resources
Our Consortium members have developed resources for educators who work with children & families affected by metabolic disorders.  These include: prenatal education resources for use in teaching expectant parents about newborn screening, and online and print guides for teachers with students who have metabolic disorders.

Transition to Adult Care
Transitioning pediatric patients with special health care needs to adult health care can be a challenge for patients, families, and health care providers.  This section contains transition resources and information for health care professionals.

Video Library
Our collection of historical and current videos illustrates vital concepts in metabolic research, screening, and treatment.

Talks and Slideshows
The talks and slideshows included here were presented by Consortium members at recent conferences and meetings.

Printed Booklets
A collection of print booklets co-produced by the Consortium, and for sale with the included order form.

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