Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism

Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism

Researchers are trying to determine the efficacy of a global metabolomic approach in testing for and diagnosing inborn errors of metabolism as opposed to traditional testing methods.

Residual samples will be tested for a variety of biomarkers that may lead to better understanding of these disorders and help develop treatment options.

Inclusion Criteria:

• All individuals with specimens in Biochemical Genetics Laboratory and from patients collected under another IRB who have agreed to share samples/data

Exclusion Criteria:

• None