Adults and children
Dr. C. Ronald Scott, Director
Cristine Trahms, M.S., RD, Director, PKU Clinic Program
Vicki Frasher, Program Coordinator
Phone: 206-685-3015
Fax: 206-685-1286
Center on Human Development and Disability, Tuesdays, Thursdays, every 3rd Wednesday
The UW Biochemical Genetics Program follows approximately 500 patients and is attended by geneticists, genetic counselors, nutritionists, and a social worker who have significant expertise in this specialized area of genetics. Inborn errors of metabolism are inherited disorders involving the production or breakdown of proteins, fats, or carbohydrates, which may be dietary in origin, or are complex molecules that are not influenced by diet. The program is divided into sub-specialty clinics, outlined below.
The Biochemical Genetics Clinic provides diagnosis, genetic counseling, and long-term management of children with inborn errors of metabolism.
Clinics are held weekly and emphasize a team approach to care. Most patients will meet with the physician, nutritionist and genetic counselor at every visit.
Examples of typical disorders managed in this clinic are disorders of amino acid metabolism such as maple syrup urine disease and tyrosinemia type I; organic acid metabolism such as methylmalonic aciduria, propionic aciduria, and isovaleric acidemia; fatty acid oxidation disorders such as medium-chain-acyl-Co-A dehydrogenase deficiency, urea cycle disorders such as ornithine transcarbamylase deficiency; and disorders of carbohydrate metabolism such as galactosemia, the glycogen storage diseases and hereditary fructose intolerance.
Management of these disorders generally requires precise manipulation of diet using specialized medical formulas and foods, along with medications. Regular follow-up of these children is necessary, both in person and by telephone.
Most children have regular laboratory testing to monitor their management. The close connection of the clinic with the Biochemical Genetics Laboratory at Children’s Hospital and Regional Medical Center makes smooth coordination of care and rapid follow-up possible. Outreach clinics are also held in Spokane, WA, Idaho, and Alaska.
The Phenylketonuria (PKU) Clinic provides diagnosis, assessment, genetic counseling and, consultation for ongoing dietary management and health supervision, as well as evaluation of treatment outcomes to all children with PKU and their families.
Long-term interdisciplinary planning and follow-up services are provided to more than 100 children each year to prevent adverse consequences of this disorder. Clinics are held monthly and have a group format. Patients are organized into sub-clinics by age, and by virtue of this clinic’s group format, parents and children develop a strong support network.
Focus is not only on medical and dietary health, but independent thinking and self-management skills facilitated by educational curricula in the clinic. As the children near adulthood they are enrolled in the clinic’s Adolescent Transition Curriculum, designed to prepare them for PKU management and life management in the adult program.
The Hereditary Tyrosinemia Type I Follow-up Protocol is a phase IV clinical trial tracking the long-term outcome of children with tyrosinemia type I who are treated with nitisinone.
Tyrosinemia type I is an inborn error of tyrosine metabolism that causes severe liver damage, liver failure, and death in early childhood if untreated. Those untreated children who survive infancy develop hepatocellular carcinoma in childhood.
In 2002 the FDA approved nitisinone [2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione or NTBC] for the primary treatment of this disorder. As an IND holder, Dr. Ronald Scott (PI) and this clinic coordinate the long-term follow-up of 60 children in the US. The Tyrosinemia PAL is a resource of written material developed for families to help them in the management of their children with this rare disorder. The UW tyrosinemia program and all materials published in the PAL can be found at http://depts.washington.edu/tyros.
The UW Adult Metabolic Clinic provides consultation, management guidance, and genetic counseling to adults with phenylketonuria and other metabolic disorders in the state of Washington. It also provides reproductive guidance to young women with PKU to help them make choices about family planning and to guide management of diet during pregnancy for those who choose this option.
The Adult PKU Program hosts annual support group activities. Information about this clinic, including the clinic’s video ‘Maternal PKU, Choices You Can Live With,’ can be found at http://depts.washington.edu/pku and http://depts.washington.edu/transmet.
The UW-CHRMC Lysosomal Disease (LSD) Program provides multidisciplinary care including consultation, examination, testing, diagnosis, treatment, and genetic counseling for patients with lysosomal diseases and their families.
The program is dedicated to the management of these rare diseases and provides care by UWMC and CHRMC specialists in many areas of medicine, coordinated by the genetics team.
The clinic team has experience in virtually all LSDs but has particular expertise in Gaucher disease, Fabry disease, and mucopolysaccaridosis type 1.
There are FDA-approved enzyme replacement therapies for these three disorders, and the UW and CHRMC are major treatment centers for our population. Our group with also work with local hospitals to facilitate transition of treatment to centers closer to each patient's home.
At UWMC, clinical trials have been conducted, and some are still ongoing for these disorders. Other activities coordinated by this program include participation in disease-specific patient registries to help delineate the natural history of these rare disorders, both with and without therapies.
Patient education and support meetings are held yearly, providing patients and their families an opportunity to mingle with other families and hear about recent advances in the field.
Attending Physicians
- Dr. C. Ronald Scott
Sub-specialty clinics: Biochemical genetics, PKU, LSD Program
- Dr. Anna L. Mitchell
Sub-specialty clinics: LSD Program (Fabry)
Genetic Counselors
- Lisa Sniderman King, M.Sc., C.G.C
Sub-specialty clinics: Biochemical Genetics, PKU, Tyrosinemia Type I Program, Adult Metabolic Program, LSD Program
- Angela C. Fox, M.S., C.G.C.
Sub-specialty clinics: LSD Program, Biochemical Genetics
Nutritionists