PKU & Allied Disorders

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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.

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National PKU Alliance

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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.

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