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Genetics Program

Biochemical Genetics Clinic

Contact: C. Ronald Scott,
For appointments contact Vicki Frasher or Caitlin Haberfield at 206-598-1800

Core Function: Clinical Services

The Biochemical Genetics Clinic provides evaluation, consultation, and management services to clients of all ages with a variety of metabolic disorders. A metabolic disorder is a term that encompasses a variety of genetically based disorders that result from an inherited inability to produce a particular enzyme necessary for normal metabolism, specifically for the production or breakdown of proteins, fats, or carbohydrates.

Because inherited metabolic disorders are rare, many providers are unfamiliar with the complex treatment regimes and other health needs associated with a particular disorder. Consistent and ongoing nutritional therapy to compensate for the missing enzyme is necessary for a person born with one of these disorders. Without therapy, toxic chemicals build up in the blood and tissues, which can lead to mental retardation and other disabilities.

Clinics are conducted by an interdisciplinary team that includes a pediatric geneticist, metabolic nutritionist, genetic counselor, and psychologist. Management of these disorders generally requires precise manipulation of diet using specialized medical formulas and foods, along with medications. Most children have regular laboratory testing to monitor their management. Genetic counselors provide genetic counseling and information about the heritability of particular disorders. The program also provides reproductive guidance to young women with phenylketonuria and other metabolic disorders to help prevent unintended pregnancies and provides diet management during pregnancy for those who choose this option, to help prevent developmental disabilities in the baby.

Disorders seen at the clinic include 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.

More Information

Biochemical Genetics Program website