UAMS Pediatrics

The Arkansas Children’s Hospital Section of Genetics and Metabolism evaluates and treats children with birth defects, developmental delays, inborn errors of metabolism, as well as those with a family history of a genetic condition.
The fact that many children inherit their traits from their parents has been known since prehistoric times. Through these facts we want to understand the process of the inherited traits through Genetics. Genes correspond to regions within DNA, a molecule composed of a chain of four different types of nucleotides—the sequence of these nucleotides is the genetic information children inherit. DNA naturally occurs in a double stranded form, with nucleotides on each strand complementary to each other. Each strand can act as a template for creating a new partner strand—this is the physical method for making copies of genes that can be inherited.

Although genetics plays a large role in the appearance and behavior of children, it is the combination of genetics with what the child’s experiences that determines the ultimate outcome. For example, while genes play a role in determining an organism's size, the nutrition and other conditions it experiences after inception also have a large effect.

Our team includes three Medical Geneticists -- doctors who are board-certified in Pediatrics, Clinical Genetics, Clinical Biochemical Genetics, and Endocrinology, three genetic counsellors, a nurse-practitioner, a nutritionist, and a newborn screening coordinator.  Our section conducts general genetics clinics four days a week at Arkansas Children’s Hospital, as well as inpatient and telephone consults.   We also conduct specialty clinics for patients with autism and neuromuscular conditions.  As such, we work closely with doctors and staff in many other pediatric subspecialties, such as Neurology, Endocrinology, Pulmonology, Gastroenterology and Cardiology.  We also have a follow-up clinic for our patients with Down syndrome, PKU and galactosemia.  Patients in the follow-up clinic are seen by our nurse-practitioner, where they can obtain routine labs as well as dietary and medical consultation.  Our pediatric Down syndrome clinic works closely with the new adult Down syndrome clinic, housed on the UAMS campus, one of the only clinics of its kind in the world.  We serve patients from all areas of Arkansas, as well as Texas, Oklahoma, Louisiana, Missouri, Mississippi and Tennessee.  We are currently seeing patients at our Northwest Arkansas Facility, the Center for Children in Lowell, Arkansas once a month Friday and Saturday.

Our clinical laboratory is distinguished by the fact that it is the only laboratory in North America which performs testing for the metabolic condition Trimethylaminuria, also known as “Fish Odor Syndrome.”

The Genetics and Metabolism clinic at ACH is a primary rotation site for medical students, residents, and fellows, as well as students from the UAMS master’s program in Genetic Counselling.

Appointments may be made by referral from a patient’s primary care physician.  Primary care physicians wishing to refer a patient may call the ACH Appointment Centre at 501-364-4000.

Contact Information
Genetics office:  501-364-2966
Genetics fax:  501-364-1564
Newborn screening coordinator:  501-364-4050
Arkansas Department of Health newborn screening hotline:  866-769-9043.
Arkansas Children's Hospital Appointment Center:  501-364-4000

Northwest Arkansas Facility, the Center for Children: 479-750-0125
Physical Address: 519 Latham Drive Lowell, Arkansas 72745


Faculty Members:

• Adolfo D. Garnica
• Stephen G. Kahler
• G. Bradley Schaefer