Has your child received a Phenylketonuria (PKU) diagnosis? You're not alone.

Contact the Center for Rare Disease Therapy

For appointments, consults, or patient referrals, contact us at 412-692-7273 or rarecare@chp.edu, or fill out the form below:

If a doctor has diagnosed your child with phenylketonuria (PKU), we want you to know that you're not alone — Specialists at the Center for Rare Disease Therapy at UPMC Children's Hospital of Pittsburgh are here to help.

The Center for Rare Disease Therapy consists of an integrated team of world-renowned experts. We focus on treating children with rare diseases, such as phenylketonuria (PKU). And we offer leading standards of care, novel rare disease therapies, and pioneering protocols in a world-class setting.

At the Center, every child diagnosed with a rare disease receives a tailored treatment plan and family-centered care.