Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

Neurological diseases due to inborn errors of metabolism  

Many types of childhood epilepsy, mental retardation, autism and other common forms of neurobehavioral disability are now thought to be manifestations of genetic abnormalities of fat, carbohydrate and protein metabolism that affect brain development and function. A major challenge to understanding human metabolism is posed by the absence of methods designed to investigate living tissues and organs directly. In this study, researchers will measure metabolism in the muscles of children with genetically determined mitochondrial diseases by NMR (nuclear magnetic resonance) techniques, the same method on which routine MRI (magnetic resonance imaging) studies are based. These studies will help to better understand the mechanisms of mitochondrial and related energy failure, improve the diagnosis of these disorders, and identify potential quantifiable biomarkers for the conduct and evaluation of future clinical trials. Project Status


Funder National Institutes of Health
Fiscal Year Funding $17,838.00
Project Number 5P41RR002584-22
Principal Investigator Pascual, Juan
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Strategic Plan Objective New! Green dot: Objective has greater than or equal to the recommended funding. 2SE. Launch three studies that target the underlying biological mechanisms of co-occurring conditions with autism including seizures/epilepsy, sleep disorders and familial autoimmune disorders by 2012. IACC Recommended Budget: $9,000,000 over 5 years.
Federal or Private? Federal
Institution University of Texas Southwestern Medical Center
State/Country Texas
Web Link 1 Neurological diseases due to inborn errors of metabolism (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Neurological diseases due to inborn errors of metabolism | $10,458.00 | 2010 | 5P41RR002584-23