Diagnosing and Treating Metabolic Conditions

MultiCare Genetics Services’ Biochemical Genetics Clinic is a subset of our  Mary Bridge Medical Genetics clinic, and specializes in evaluating, diagnosing and treating metabolic conditions, such as organic acid disorders, amino acid disorders, fatty acid disorders, mitochondrial disorders, and lysosomal storage disorders.

How We Help

Our Biochemical Genetics team — a board-certified metabolic geneticist, genetic counselor, nurse practitioner, as well as a clinical nutritionist— help diagnose or rule out metabolic conditions or illnesses.

Services we provide include:

  • Condition-specific gene tests or gene panels
  • Condition-specific blood or urine tests
  • Evaluation for underlying cause of condition
  • Skin biopsies
  • Imaging studies
  • Appropriate referrals to other specialists
  • Follow up
  • Dietitian access
  • Treatment orders as necessary, including but not limited to infusion therapy, special supplements and foods, appointments with other specialists

We also offer continued care and management for a known metabolic condition, for children and adults of all ages, including newborns.

Who We Help

We serve both children and adults on a referral basis. Not all patients can be helped by our services. Possible referrals include patients with abnormal metabolic laboratory results, regression, seizures, failure to thrive, enlarged organs, muscle weakness, change in muscle tone or medical decompensations.

Patients are also commonly referred to our clinic for these symptoms or conditions:

  • Abnormal Newborn Screening
  • Biotinidase deficiency
  • Fabry
  • Fatty acid oxidation disorders
  • Galactosemia
  • MCADD (Medium-chain acyl-CoA dehydrogenase deficiency)
  • Mitochondrial disorders
  • Organic acidemias
  • Urea cycle disorders