Phenylketonuria (PKU)

A person has phenylketonuria (PKU) when their body cannot process a chemical called phenylalanine. The resources in this section are for parents of babies and children with PKU, and also for teens and adults who have PKU —

PKU: A Guide for Parents of Babies Recently Screened
This guide explains what PKU is, how babies are tested for it, what effect it has, and how it is treated

An Educator’s Guide to PKU – This guide is for teachers to help support children with PKU at school. Developed in the Divisions of Metabolism and Genetics at Boston Children’s Hospital, with input from teachers, students, and parents, the guide includes helpful information about low-Phe nutrition, common learning challenges, guidance for educators, resources to find additional information and support, and more.

PKU Primer for Adolescents and Adults
This guide features information for adolescents and adults with PKU. It includes: a definition of PKU, how it is inherited, how to maintain a healthy diet, how to handle school/work, and details about becoming pregnant if you are a woman who has PKU.

PKU Toolkit
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 information, resources, checklists, and quizzes to help you better manage your PKU. Also included is information about new, more convenient and tasty options in PKU formula and low-protein foods. Reading this toolkit can also be useful for family, friends and significant others of adults with PKU.

PKU Nutrition This section includes tips on formula and diet, a big collection of low-protein recipes, and other nutrition resources for adults and teens with PKU, and for parents of children who have PKU. The more information and options you have, the better you can handle the challenges of staying on-diet, keeping Phe levels low, and consistently taking the formula.

Maternal PKU & Pregnancy: Making Every Week Count
If you are a woman with phenylketonuria (PKU), and are planning to get pregnant, or already are pregnant, this guide is for you.   Developed by metabolic and nutrition specialists at Boston Children’s Hospital, the guide includes sections on PKU, Maternal PKU, genetics, newborn health, PKU recipes, and PKU & pregnancy resources.