What is PKU?
Phenylketonuria is an autosomal recessive genetic metabolic disorder that greatly reduces the ability of those affected to metabolize phenylalanine, one of the amino acids in protein. A buildup of phenylalanine (phe) in the blood can cause profound damage to the central nervous system in children and adults. If untreated in newborns, PKU can cause irreversible brain damage within months. Lifelong treatment is required to prevent neurological and physical deterioration.
PKUNews.org
PKU & Metabolic Disorder Organizations
National PKU Alliance (NPKUA)
The mission of the NPKUA is to improve the lives of people with PKU and pursue a cure. They offer peer and maternal PKU mentoring programs, provide educational materials, coordinate grassroots advocacy efforts surrounding the Medical Nutrition Equity Act, maintain the only worldwide PKU Patient Registry, and support research to accelerate the timeline for better treatments and a cure.
Facebook page: https://www.facebook.com/NationalPKUAlliance
PKU Patient Registry: pku.iamrare.org
PKU News
National PKU News provides resources and support for individuals, families, and clinicians managing PKU (Phenylketonuria) and other inborn errors of metabolism. Our mission is to leverage innovation, insight, and research to improve the health, well-being, and daily lives of those with PKU and other IEMs.
In July 2014, they launched HowMuchPhe.org with the goal of bringing Virginia Schuett’s Low Protein Food List for PKU online for easy, on-the-go access in a format we could continually improve and update.
European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (ESPKU)
E.S.PKU (European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria) was founded in 1987. It is a patient-driven non profit umbrella organization representing PKU organizations across Europe.
New England Connection for PKU and Allied Disorders (NECPAD)
Our Mission: To provide support and services to all individuals and families with PKU and allied disorders, and to encourage research and increase public awareness of the conditions.
NECPAD benefits and supports individuals and their families with inherited metabolic disorders including: Phenylketonuria (PKU), Homocystinuria (HCU), Maple Syrup Urine Disease (MSUD), Organic Acidemias, Tyrosinemia (TYR), & Urea Cycle Disorders (UCD).
Tennessee PKU Foundation
The mission of the Tennessee PKU Foundation is to provide support and education to individuals and families affected by PKU and similar metabolic disorders, raise community awareness, support PKU research, and promote the overall health and well-being of Tennesseans living with PKU and similar metabolic disorders.
Georgia PKU Connect
Georgia PKU Connect was founded in 2008 by three mothers, each with a child born with Phenylketonuria (PKU). Support for the organization was cultivated through an online, Georgia-focused PKU Yahoo Group and the inspirational spirit of Emory University’s Metabolic Nutrition Team. The successful launch of Georgia PKU Connect can also be attributed to the positive energy and contributions of local families and adults with PKU!
Intermountain PKU and Allied Disorders
The Intermountain PKU and Allied Disorders group was formed in 2008, and received its 501(c)(3) status in 2009. IPAD was formed by members of the PKU community who share a desire to promote PKU awareness. In fall of 2008, the first meetings began with a purpose of establishing a group that could support individuals served by the metabolic clinic at Primary Children’s Hospital. The first meetings included those who became the current board of directors. IPAD has since held several community events, pursued fundraising opportunities, and served as a distribution point for critical PKU information.
Iowa PKU Foundation
The mission of the Iowa PKU Foundation is to help Iowan PKU families to secure adequate nutritional, educational, and emotional support to enhance their lives.
Indiana PKU and Allied Disorders Association
Our organization was formed in order to be a resource to Indiana families who live with PKU or other allied disorders. It was incorporated from 1996-2019, and now exists as an informal support network.
Minnesota PKU Foundation
The Minnesota PKU Foundation is a nonprofit charity focused on the welfare of individuals with PKU and their families. The programs and services offered through the Foundation are the result of a very active patient/family constituency and Board of Directors.
Michigan PKU and Associated Disorders
Michigan PKU & Associated Disorders Inc. is a Michigan based non-profit – 501c(3) organization dedicated to providing support for individuals and families affected by PKU and associated metabolic disorders. We aim to promote social and educational activities for affected individuals and their families. We contribute our fundraising efforts to the Metabolic Clinic at Children’s Hospital in Detroit and support research on metabolic disorders throughout the world.
Mid-Atlantic Connection for PKU and Allied Disorders (MACPAD)
The Mid-Atlantic Connection for PKU and Allied Disorders (MACPAD) is a non-profit 501(c)(3) organization, dedicated to improving the health and well being of individuals and families affected by Phenylketonuria (PKU) and related metabolic disorders.
The mission of MACPAD is to enrich the lives of individuals and families of individuals with inherited metabolic disorders by disseminating information, providing supportive activities and encouraging the exchange of ideas.
California Coalition for PKU and Allied Disorders (CCPKUAD)
CCPKUAD is a 501(3)c non-profit organization. We are a volunteer group of individuals committed to provide support, information, education and advocacy to individuals with PKU and other inborn errors of metabolism.
PKU Organization of Illinois & Allied Disorders
The PKU Organization of Illinois was formed in 1969 by parents and medical staff from the PKU community hoping to be a resource to other families with PKU. This is still the case today. In addition to PKU families, we support teens, adults and those who have left diet who hope to return. In addition to PKU, we support 16 Allied Disorders.
Maryland Alliance of PKU Families
MAPKUF is a non-profit organization dedicated to supporting people with PKU.
Louisiana Metabolic Disorders Coalition
LMDC is a coalition of parents, friends and people affected by metabolic disorders. The mission of the LMDC is to support, educate, and advocate for patients and families that are affected by metabolic disorders.
Alabama PKU Foundation
The Alabama PKU Foundation supports families in Alabama affected by PKU. We are a tax exempt organization under Internal Revenue Code (IRC) Section 501(c)(3).
Arizona Network for PKU and Allied Disorders (ANPAD)
Arizona Network for PKU and Allied Disorders (ANPAD) was founded in 2011 by PKU parents, patients and medical professionals with the goal to fill the void of support groups offered to patients and families effected by PKU and allied genetic disorders. The founders Kristi Smith, an adult with PKU and her husband Matt Smith, Margaret Delaney, Ann Hall and Mark Stanley, all parents of PKU children and Sarah Cox MS, CGC have grown ANPAD into a licensed 501(c)(3) non-profit that hosts fundraising events, a summer camp and support groups for the patients and families of Arizona. We are your connection for PKU and Allied Disorders in Arizona, and we invite families, friends, co-workers, medical professionals and individuals with PKU or an allied disorder to join us in our mission.
PKU Northwest Alliance
The PKU Northwest Alliance is a non-profit 501c(3) organization formed in 2003 by a group of motivated parents who wanted to connect with other families living with Phenylketonuria (PKU) and the allied metabolic disorders. Our mission is to create a supportive community for PKU families, promote healthy living choices and offer resources to help manage the PKU diet.
About Me
PKU, Newborn Screening, & Rare Disease Advocate
I produced my first PKU short documentary, "My PKU Life", in 2011. Since then I've been traveling the world speaking as a PKU & newborn screening advocate and producing videos about PKU.
