Clinical Biochemical Genetic Assays Associated with Inborn Errors of Metabolism and Other Heritable or Congenital Conditions


About this study

The objectives of this protocol are to develop and validate clinical assays for inborn errors of metabolism (IEMs) using specimens collected from consenting individuals who have a confirmed diagnosis of an IEM or are a first degree relative of an individual with an IEM and to improve the diagnosis of IEMs by establishing and/or refining disease ranges for each analyte measured and to improve the care of these patients by reducing the number of false positive results and unnecessary follow-up.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. If you need assistance understanding the eligibility criteria, please contact the study team.

Inclusion Criteria:

  • Pediatric and adult individuals with a known diagnosis of an IEM and first degree relatives of these individuals.
  • For individuals with a known diagnosis to be included, previous biochemical or molecular genetic testing must confirm their diagnosis. 
  • For relatives to be included they must be first degree relatives

Exclusion Criteria:

  • Individuals that do not meet the above inclusion criteria.   

Participating Mayo Clinic locations

Study statuses change often. Please contact us for help.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Dietrich Matern, M.D., Ph.D.

Closed for enrollment

Contact information:

April Studinski Jones M.S., LCGC


More information


Publications are currently not available

Study Results Summary

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Supplemental Study Information

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