Genetics and Metabolism

Pediatrician Ralph DeBerardinis, M.D., Ph.D., is involved in the diagnosis and care of children with inborn errors of metabolism.

Medical genetics is the branch of medicine concerned with how hereditary and genetic factors play a role in causing a disease, birth defect, or inherited susceptibility to a health problem. Genetic disease knows no boundaries by age, sex, race, or country of origin.

According to a study published in the American Journal of Human Genetics, an underlying disorder with a significant genetic component was found in 71 percent of pediatric hospitalizations. In the study, the vast majority of underlying chronic disorders were either clearly genetic or had a genetic susceptibility.

Even with normal prenatal diagnosis through testing like amniocentesis, there is still a 3 percent to 4 percent chance that a child will be born with some type of birth defect or health problem. Research in medical genetics provides physicians with information about the genetic mechanisms that can result in disease.

Specialty Clinics

The Down Syndrome Clinic provides comprehensive care for children with Down Syndrome and their families.

Care includes:

  • Genetic counseling
  • Medical management
  • Physical development evaluation and recommendations
  • Psychosocial support
  • Referral to community agencies for educational intervention or therapies
  • Screening and referral for behavioral or psychiatric problems
  • Speech and oral motor developmental evaluation and recommendations

The clinic’s team of professionals has more than 50 years of experience in caring for children with Down Syndrome.

The Genetics/Dysmorphology Clinic at Children’s Medical Center Dallas provides evaluation and testing for patients with known or suspected genetic disorders, information about specific genetic diseases, comprehensive case management with referral to medical specialists and community resources, and family history analysis. Other services include nutritional evaluation and counseling for children with hereditary diseases, psychosocial assessments, genetic counseling to discuss reproductive options, and chromosomal metabolic and DNA analysis for diagnosis of genetic disease.

The Metabolic Disease Service offers evaluation and testing for children with known or suspected inborn errors of metabolism, education about these conditions, and comprehensive case management with referral to medical specialists and community resources. In addition, physicians provide family history analysis and genetic counseling to discuss reproductive options, nutritional evaluation, and counseling for children with inborn errors of metabolism.