Biochemical Genetics Clinic

The Biochemical Genetics clinic specializes in evaluating and treating both children and adults with suspected or confirmed inherited metabolic diseases. The multidisciplinary team of health care professionals includes a physician board certified in clinical biochemical genetics, nurse practitioner, licensed genetic counselor, dietitians with specialized training in inherited metabolic disorders, and dedicated nursing team from both the department of Genetic Medicine at Munroe-Meyer Institute and Children’s Hospital & Medical Center.

Typical reasons for referral include:

• Abnormal imaging studies or biopsies suggestive of an inherited metabolic disorder
• Abnormal newborn screen results
• Known inherited metabolic disorder diagnosis
• Lab abnormalities suggestive of an inherited metabolic disorder (e.g. acylcarnitine profile, urine organic acids, plasma amino acids, etc)
• Regression / unexplained loss of skills
• Unexplained seizures, episodes of vomiting, food aversions

Providers
Craig Baker, MD, FACMG
William Rizzo, MD
Jess Hansen, APRN-NP
Jill Skrabal, PhD, RD, LMNT, CDCES
Amy Volkman, RD, LMNT
Alyssa Keller, MS, CGC