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Contact: Vicki Frasher (206-598-1800)
Core Function: Clinical Services
Program: Genetics Program
The Biochemical Genetics Clinic provides evaluation, consultation, and management services to clients of all ages with a variety of metabolic disorders. Metabolic disorder is a term that encompasses a variety of disorders that result from an inherited inability to produce a particular enzyme necessary for normal metabolism of proteins, fats, or carbohydrates. Because inherited metabolic disorders are rare, many providers are unfamiliar with the complex treatment regimens 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, and can lead to permanent intellectual disability 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. Staff provide counseling about the heritability of particular disorders and guidance on family planning.