We put the patient first in all that we do.

We understand that having a rare disease brings unique challenges, but know that you are not alone.

Every day we work to advance safe and effective therapies with the potential to change the course of the disease for our patient communities. Our focus is on rare metabolic diseases, including our clinical programs in Arginase 1 Deficiency and Homocystinuria, where there are only limited or ineffective treatments available.

But our work goes beyond delivering innovative solutions. We collaborate with patients, families, advocacy groups and physicians in order to:

  • improve disease education and awareness
  • to expand testing and diagnosis
  • ease the burden that can come with living with a rare metabolic disease
  • connect families with others to provide support and build community
If you’re interested in learning about our activities within the patient community (including advisory boards, educational webinars, Spanish-speaking forums, etc.), please contact [email protected].


We know that caring for a person with a rare disease may bring about challenges. We are proud to share different resources that have been helpful to others and may be helpful for you. We want you to know you are not alone.

Click on the links below to download the following PDF resources:

Fueled by compassion and driven by a desire to make a difference, we come to work each day to fulfill our commitment to improve the lives of people and families with rare metabolic diseases.


Together we can make a change. We’re proud to work with advocacy groups across the globe to bring together rare metabolic disease patients and families and to support disease education and awareness. You can learn more about the activities of these groups here:

Advancing Our Programs in the Clinic