Who We Are

arrow PNG
  • Who we are

    We are a 501(3)c charitable 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.
  • Where We Are

    arrow PNG
  • Where we are

    We are located at:
    2310 Homestead Rd Suite C1, Box 154 Los Altos, CA 94024.

  • History

    arrow PNG
  • History

    Established in 1981, we were known as PKU Parents of California. In 2005, we changed the name to the California Coalition for PKU and Allied Disorders in order to provide support to individuals with genetic IEM’s.
  • Our Mission

    arrow PNG
  • Our Mission

    Our Mission is to provide support to all families living in California who are involved with or affected by PKU and/or Allied Disorders.

    (Click "info" to exit this screen)

  • Info

    Welcome

    to the California Coalition for PKU and Allied Disorders (CCPKUAD)
    teaser image

    Home | Donate | Contact



    What is PKU?

    Phenylketonuria (PKU) is the most common of the rare inborn errors of metabolism (IEM’s), The incidence of PKU is one in 10-15,000 live births. PKU is caused by the inactivity of the enzyme phenylalanine hydroxylase (PAH). This enzyme breaks down the amino acid phenylalanine (PHE) to the amino acid tyrosine. In PKU the PAH is impaired, PHE builds up in the blood and causes brain damage if not treated. PKU is identified by the Newborn Screening Program by a simple blood heel stick shortly after birth. Those who are identified with PKU have elevated blood phenylalanine levels. The mainstay of treatment has been the dietary restriction of PHE, which is found in protein, along with a medical food product to supply all the other amino acids. However, there is now a new drug for the treatment of PKU, Kuvan, which is now available. Research has increased within the past 10 years and there are many new products and treatment options. It is estimated that there are approximately 2,000 individuals in California with PKU.

    What are the Allied Disorders?

    These are really rare genetic metabolic disorders that are detected by California Newborn Screening Program. These include Maple Syrup Urine Disease (MSUD), Homocystinuria (HCY), Methylmalonic acidemia (MMA), Propionic Acidemia, fatty acid disorders and others.

    Want to know more?

    National PKU Alliance

    Get involved with PKU issues at the national level

    National PKU News
    Sign up for quarterly newsletter about current research, new products, events, etc!

    Disease Information from NORD, National Organization for Rare Disorders, Inc.

    Non-profit health agency dedicated to the identification, treatment and cure of rare “orphan diseases” such as PKU.  Helps with medical care and financial needs.

    Patient Power: Patient Power Is a series of online radio and video programs for patients.  The programs feature renowned medical experts and a wide variety of topics.

    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.
    We became an organization in 1981 formed by parents and our group was formerly known as PKU Parents of California.
    In 2005 we changed the name to the California Coalition for PKU and Allied Disorders in order to provide support for other individuals with genetic IEMs. After a 4 year period of inactivity, the current group of officers resurrected the group in an effort to bring together this community and provide a much needed organization in California.
    WE WANT TO HEAR FROM YOU! Please click on the icons below to send us an e-mail, follow us on Twitter, and "like" us on Facebook!

    Add Us

    Email UsFacebookTwitter

    © 2010 CCPKUAD
    Theme: GC02 by GlossyCat