Title of Study:  4903  Neurocognitive Assessment and Multimodal Neuroimaging of Rare Disorders of Metabolism

Status: Consent to Participate in Clinical Research Study by release of medical records, electroencephalogram (EEG), and magnetic resonance imaging (MRI) data files



Urea cycle disorders represent a group of rare inborn errors of metabolism due to accumulation of ammonia, a toxic product of protein metabolism. Individuals with urea cycle disorders cannot metabolize the ammonia that accumulates due to enzyme deficiency. The symptoms of these disorders may present at birth, childhood or adulthood (milder deficiencies). There are currently eight enzyme deficiencies that constitute the range of inborn errors of ureagenesis. This project will focus on the most common enzyme disorder of the urea cycle, ornithine transcarbamylase deficiency (OTCD), inherited as an X-linked trait. As a result of this study, a greater understanding of the anatomic, cognitive, motor, and biochemical underpinnings of neurologic damage attributable to this metabolic disorder will be gained.

About this Study

The purpose of this study is to examine the brain basis of disorders caused by errors in metabolism, like urea cycle disorders.  The goal is to study a group of individuals with metabolic disorders and compare the findings with a group of people who do not have metabolic disorders. The type of information being requested is:

  • Medical records
  • MRI (magnetic resonance imaging) scans and raw data files
  • EEG (electroencephalogram) results

You will be asked to give consent for the study investigator to review medical records including any any MRI scans that were previously done. The investigator will use advanced imaging processing to look at the scans in a quantitative way. This can tell the investigator more information than just looking at the MRI pictures.


To be eligible to participate, you/your child:

  • Must be between the ages of 1 day and 60 years of age
  • Must have an inborn error of metabolism or are a carrier of one of these conditions
  • Must not have a history of substance abuse, psychiatric or mental decompensation at the time of the study
  • Must have had a previous MRI and/or EEG and be willing to release this information along with medical records


How to Participate:

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.

  • Georgetown University, Washington, DC
    Paul Robinson, Research Coordinator
    Georgetown University Department of Neurology
    Phone: 202-687-7823

    Site/Study Principal Investigator

    Andrea L. Gropman, M.D., FAAP, FACMG, FAAN
    Director, Neurogenetics Program, Associate Professor in Neurology and Pediatrics Children's National Medical Center
    111 Michigan Avenue, N.W., Washington, D.C.

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