Enzyme Deficiency Study

Laboratory Study of Acyl-CoA Dehydrogenases

Protocol Description

The purposes of this research are to study cells from patients with metabolic diseases caused by a lack of certain proteins and to relate changes in these proteins to the patient’s symptoms. The proteins of interest are the enzymes known as the acyl-CoA dehydrogenases.

Eligibility Criteria

Each year approximately 50 participants diagnosed as having a disease caused by a lack of acyl-CoA dehydrogenases will be enrolled with no restrictions as to age or gender.
Males and Females: All ages


There are no special requirements. A tissue sample taken for biopsy as part of normal evaluation will be sent for laboratory analysis as part of the study. The participant’s physician will also provide medical record information to confirm the original diagnosis.
Visits: Not applicable
Duration: Not applicable

Status: Open for Enrollment

Source(s) of Support

National Institutes of Health

Additional Information

Genetic and Genomic Medicine Research

Primary Investigator

Gerard Vockley, MD

Contact Information

For more information about the study or enrollment, please contact:
Jennifer Baker, MA