Neurometabolic

The Neurometabolic (or Biochemical) Genetics service provides treatment and medical management for individuals with known inborn errors of metabolism as well as comprehensive evaluations and diagnostic services for those with suspected metabolic disease.

Clinic Team

Individuals undergoing evaluation in the Neurometabolic Clinic will be seen by a team that may include any or all of the following specialists: medical geneticists, genetic counselors, dieticians, medical genetics fellows and visiting physicians of varying specialties.

Attending Physicians

• Seymour Packman, MD - Director Biochemical Genetics
• Robert Nussbaum, MD – Medical Geneticist
• Katherine Rauen, MD, PhD – Medical Geneticist
• Elliott Sherr, MD, PhD – Pediatric Neurologist
• Anthony Wynshaw-Boris, MD, PhD – Medical Geneticist

Visiting Physician

• Greg Enns, MB, ChB – Medical Geneticist

Genetic Counselors

• Cindy Johnston, MS – Coordinator Lysosomal Disease Center
• Cindy Morgan, MS – Coordinator Neurometabolic Clinic
• Erin Nicholas, MS
• Michelle Strecker, MS
• Kara Weisiger, MS

Metabolic Dietitians

• Kelly Zamkoff, RD
• Carol Zlatunich, RD, CSP

Clinical Evaluations

Clinics occur on Monday mornings, Tuesday afternoons and Friday mornings.  New patients referred to the Neurometabolic service are usually seen in the Monday morning or Tuesday afternoon Neurometabolic Clinic.  This clinic is located in the Pediatric Specialties area on the 2nd floor of the Ambulatory Care Center at 400 Parnassus Avenue.  Follow-up patients are usually seen on Friday mornings.  This clinic is also held in the Pediatric Specialties area of the Ambulatory Care Center at 400 Parnassus Avenue. 

Research

In addition to the clinical service we also conduct clinical research of patients with rare inborn errors of metabolism.