Metabolic Program

The Metabolic Program at CDRC is the only one of its kind in the state. It is one of a network of national and international centers that share information and experience. The program provides state-of-the-art diagnostic and management services for children with confirmed or suspected metabolic inborn errors. Efforts range from case finding through diagnosis, evaluation, management, genetic counseling and treatment. the program welcomes referrals at any age.

Specialty Service

This program provides multidisciplinary evaluation and management of all metabolic disorders. These disorders may affect the function of any organ and appear at any age. Special areas of expertise include disorders of amino acid and sugar metabolism, storage disorders, and related degenerative neurologic conditions, muscle defects and defects of mitochondrial function. When appropriate, the nutritionist provides individualized consultation and management of special diets.
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A Team with Broad-based Expertise

A pediatrician who also is board certified in medical genetics directs the program. Other team members include a registered dietician, a nurse, a social worker, an occupational therapist, a physical therapist, a speech and language pathologist and a psychologist. Other medical specialists such as orthopedists and neurologists are available for consultation as needed.
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Specialty Clinics

The Metabolic clinic is conducted twice weekly at CDRC in Portland. A representative of the program typically calls the family before making the clinic appointment to assess needs and concerns. From this information it is possible to optimize the schedule and plan the services to be provided at the clinic visit.

The program also provides clinics periodically at CDRC in Eugene and Medford, and offers periodic outreach clinics in Idaho, Montana and Alaska.
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Urea Cycle Disorders

Treatment Protocol for Incurrent Hyperammonemia

Consent for treatment of UCD with an experimental drug
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Nutritional Information

Where to Order Q-Gel: http://www.qgel.com/ordering.html (external link)
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Tyrosinemia

Favorable results have been reported regarding the investigational orphan drug nitisinone (Orfadin) as an experimental treatment for tyrosinemia type I. This drug is a protein inhibitor of 4-hydroxyphenylpyruvate dioxygenase that reduces the formation of toxic metabolites associated with tyrosinemia type I. It is produced by Rare Disease Therapeutics, Inc., and may be approved for marketing in the United States in 2001 or thereafter. Physicians wishing to obtain the drug while it remains experimental may contact the manufacturer at:

Rare Disease Therapeutics, Inc.
1101 Kermit Drive, Suite 608
Nashville, TN 37271
Tel: (615) 399-0700
Fax: (615) 399-1217
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Acquiring Samples

Handling Tissues for Molecular Diagnosis

Protocol for a Patient Dying of Suspected Metabolic Disorder

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How to make a Referral

Referrals are welcome from any source including parents, educators, caseworkers, physicians, and other health/allied health care providers. Many families require a referral from their primary care provider in order for their insurance to cover the service; if this is the case, our bilingual administrative staff can help you with the process. For more information, or to initiate a referral, please call 503-494-8095 or 800-452-3563.