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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.
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
National Institutes of Health
Medical Genetics Research
Gerard Vockley, MD
For more information about the study or enrollment, please contact:
Jennifer Baker, MA
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One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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