Specialty Center Overview
Activities of the Division of Genetics and Metabolism
The Metabolism Service at the University of Minnesota
Our Patients
Clinic Hours & Location
Appointments
Health Care Providers
Contact Information
Research & Links
Specialty Center Overview
The Metabolism Clinic is a tertiary specialty center that provides high quality, compassionate, and thoughtful diagnostic evaluations and follow up care of patients and families at risk for or affected by inborn errors of metabolism.
The activities of the Division of Genetics and Metabolism in the Department of Pediatrics include:
- Multidisciplinary evaluations of infants, children, adults and families who are suspected to have a metabolic disease
- Education of families, health care providers, genetic counseling students, dietician students, nurse practitioner and medical students, residents and fellows regarding the evaluation and management of metabolic diseases
- Clinical, academic and laboratory research
- Vigorous scientific collaborations with members of the Institute of Human Genetics, the Department of Genetics, Cell Biology and Development, the Department of Laboratory Medicine and Pathology, the Molecular Medicine Program, the Center for Developmental Genetics, the Center for Neurobehavioral Development and other interdisciplinary groups with scientific priorities that integrate with those of the Division
- Participation in the interdisciplinary efforts of the Medical School, providing expertise in Medical Genetics
- Collaboration with the Minnesota Newborn Screening program
- Metabolic nutrition services
- Genetic counseling services
- Care coordination services
The Metabolism Clinic at the University of Minnesota
The Metabolism Clinic team consists of physicians and a certified pediatric nurse practitioner, a metabolic dietician, a certified genetic counselor and others who work together to provide a multidisciplinary team approach to the long-term management of infants, children and adults with a variety of inborn metabolic conditions.
Conditions managed by the metabolic staff include disorders of amino acid, fatty acid oxidation, organic acid and urea cycle metabolism, galactosemia and biotinidase deficiency, lysosomal storage diseases, and a variety of other conditions. The Pediatric Metabolism Clinic also works closely with the Minnesota Department of Health Newborn Screening program to initiate prompt evaluation and long-term follow up of newborns suspected of having a metabolic disease.
Care coordination services are facilitated through the Newborn Screening and Metabolic Care Coordinator. Individualized needs assessments are conducted when possible and connection to a wide variety of resources may be offered based on mutually identified needs.
Our Patients
Many infants, children and adults suspected of having an inborn error of metabolism are evaluated in the Metabolism Clinic each year. Many patients continue to be followed long-term. We also provide prompt evaluation and long-term clinical follow up of newborns ascertained through the Minnesota Newborn Screening program.
Clinic Hours & Location
Patients with metabolic conditions or who are undergoing metabolic evaluation are seen in the Metabolism Clinic on Wednesdays from 7:45 am - 12:00 pm.
Patients with hyperphenylalaninemia or phenylketonuria (PKU) are seen in the PKU Clinic on Thursday afternoons from 12:30 pm - 4:30 pm. Both clinics are located in the Pediatric Specialties Clinic on the 4 th Floor of the Phillips-Wangensteen Building, 516 Delaware Street SE, Minneapolis, MN 55455. The physician on-call for the Metabolism service is available 24 hours/day. Inpatient metabolic consultations are available 24 hours/day.
Appointments
To schedule a new or return appointment in the Pediatric Metabolism Clinic please call theCall Center at (612) 626-6777, option #2 between 8:00am and 4:30pm, Monday through Friday. Interpreters are available.
All new patients to our clinic meet with a genetic counselor who will take a family history. This is an important part of our evaluation in determining if the genetic or metabolic condition in the family is hereditary.
It is very important to have medical records, test results, X-rays, and other information from your referring health care provider that may apply to the reason for your appointment. It is especially helpful to have them prior to the clinic appointment. Please have your clinic fax medical records to the Genetics and Metabolism Clinic at the University of Minnesota Children's Hospital, Fairview at fax number (612) 626-2993 or mail the information to:
Department of Pediatrics
Division of Genetics and Metabolism
MMC 730
420 Delaware Street SE
Minneapolis , MN 55455
You may also bring records the day of the appointment.
Health Care Providers
Susan A. Berry, MD
Chester B. Whitley, MD, PhD
Lisa Schimmenti, MD
Kyriakie Sarafoglou, MD
Kristi Bentler, MS, RN, CPNP
Cindy Pham Lorentz, MS, CGC
Krista Redlinger-Grosse, MS, CGC
Dorothy Markowitz, RD
Contact Information
For urgent/emergency metabolic or newborn screening concerns, please call the University of Minnesota Children's Hospital, Fairview, page operator at (612) 273-3000 and ask to speak with the physician on call for the Pediatric Metabolism service.
Main Telephone: (888) KIDS-UMN (1-888-543-7866) or 612-626-6777, option #2.
Research
Please visit our divisional research page for more information about our clinical, academic and laboratory research activities.
Links
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