Inborn errors of metabolism (IEMs) are childhood diseases that mutations in metabolic enzymes and nutrient transporters cause. They manifest with acute states of metabolic imbalance and chronic dysfunction of the brain, liver, heart and other organ systems. Although individually rare, altogether IEMs number in the hundreds and account for a substantial fraction of admissions to pediatric hospitals. Importantly, many IEMs are treatable once the underlying defect is identified. Thus, every IEM provides an opportunity to learn something new about human metabolism and discover new treatments for sick children.
We established a seamless collaborative environment between the clinical Division of Pediatric Genetics and Metabolism at UT Southwestern and the Genetic and Metabolic Disease Program (GMDP) in the CRI. An IRB protocol allows us to recruit any patient from the clinics into a series of research studies designed to better understand existing IEMs and to use genomics and metabolomics to discover new IEMs. We use metabolic functional analyses in patient-derived cells and, in some cases, novel mouse models to assess the effect of potentially disease-causing mutations. To learn more about this program, please visit the GMDP.