Genetics & Metabolism
Overview
The Division of Pediatric Genetics and Metabolism's team of health professionals is comprised of pediatric clinical geneticists, certified genetic counselors, registered dietitians, and nurses/clinical study coordinators. They collectively offer diagnosis, management, and genetic counseling for children and adults with disorders that are known or suspected to be caused or influenced by genetic factors. Such disorders include birth defects, chromosomal abnormalities, unexplained mental retardation, many types of short stature, connective tissue disorders, and inborn errors of metabolism.
The division sees patients through outpatient consultations provided in Triangle-area clinics at N.C. Children’s Hospital in Chapel Hill and the N.C. Children's Specialty Clinic in Raleigh. The division also sees patients at clinics in Fayetteville and Lumberton. Learn more about the Divisionof Pediatric Genetics and Metabolism by visiting the division's Web site.
Special Services
Genetic consultations are provided in conjunction with many other clinics including the craniofacial and neurocutaneous disorders clinics at UNC.
The division also holds a multidisciplinary clinic for patients with Prader-Willi syndrome the first Thursday of the month in Chapel Hill. A team composed of biochemical geneticists, a Ph.D. biochemist/nutritionist, and a genetic counselor provides comprehensive management of inborn errors of metabolism, including phenylketonuria (PKU), galactosemia, maple syrup urine disease (MSUD), organic acidurias, amino acid disorders, urea cycle disorders, vitamin D-resistant rickets, and inborn metabolic disorders. A biochemical genetics laboratory monitors patients with amino acid disorders (e.g., plasma and blood spot amino acid analysis) and galactosemia (e.g., RBC galactose-1-phosphate measurements).
An M.D. clinical geneticist/cytogeneticist is available for consultation regarding chromosome abnormalities diagnosed pre- or postnatally.
Contact Information
PHONE (general info and appointments): (919) 966-4202
FAX: (919) 966-3025
