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. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

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 the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

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

Contact us for the latest status

Contact information:

April Studinski Jones M.S., LCGC

(507) 538-1582

More information


Publications are currently not available

Study Results Summary

Not yet available

Supplemental Study Information

Not yet available


Mayo Clinic Footer