These resources are for health care professionals who treat patients with inborn metabolic disorders. Some are directly for professionals, and others are meant for distribution to patients and familes.
Newborn Screening: A Guide for Parents
This guide explains to parents why newborns are screened for metabolic disorders, how the screening works, what the results mean, and what parents can do if their pediatrician recommends follow-up testing.
For Parents of Babies with Metabolic Disorders
This is a collection of guides for parents of newborns who have tested positive for a certain metabolic disorder. Each guide explains what the metabolic disorder is, why a baby has it, the symptoms and effects, and the treatment.
PKU Primer for Adolescents and Adults
This detailed guide is for for health care providers who treat adolescent and adults with PKU. It is designed for distribution and discussion, and includes: a definition of PKU, a description of how it is inherited, how to maintain a healthy diet, how to handle school/work, and details about maternal PKU and maintaining a health pregnancy.
This toolkit is designed to be a personal guide for teens and young adults with PKU, including comprehensive information about nutrition, diet, treatment, and lifestyle issues. It provides resources, checklists, and quizzes to help young adults better manage thier PKU. Also included is information about new options in PKU formula and low-protein foods. Reading the toolkit can also be useful for family, friends and significant others of teens and adults with PKU.
Maternal PKU & Pregnancy: Making Every Week Count
This guide is for women who have phenylketonuria (PKU), and are planning to get pregnant, or already are pregnant. Developed by metabolic and nutrition specialists at Children’s Hospital Boston, the guide includes sections on PKU, Maternal PKU, genetics, newborn health, PKU recipes, and PKU & pregnancy resources. Being pregnant with PKU is challenging, but with careful planning ahead of time, and with the right diet, health care, and information, women who have PKU can experience the wonder and joy of carrying and delivering a healthy baby.
Moving Forward: Your Guide to Galactosemia and Primary Ovarian Insufficiency (POI)
This comprehensive five-part guide, produced at Children’s Hospital Boston, contains sections for teens and women who have galactosemia and POI, and for their family members. The guide explains the symptoms and underlying causes in easy-to-understand terms, and outlines ways of getting the care and support patients and families need. It also provides a list of resources, and a glossary of medical terms.
Teen Challenge is an exciting, three-day, summer event designed especially for teenagers (ages 13-18 years) with PKU or other metabolic conditions. The program is offered through the Metabolism program at Children’s Hospital Boston, and is designed to help teens build a supportive social network, try new and challenging activities, build resiliency and self-confidence, and build skills for independent health managment.
Regional Metabolic Centers
Metabolic clinics and centers in the New England states: Connecticut, Maine, Massachusetts, Rhode Island, and Vermont.