Overview
The Neurometabolic Program in the Neurology Division at Cincinnati Children's Hospital Medical Center is a clinical and educational program to improve the diagnosis and care of children with neurometabolic disorders.
The clinic focuses on disorders of energy metabolism, but also patients with metabolic disorders affecting the central nervous system only, specifically such as non-ketotic hyperglycinemia.
New Research
- A new disorder in energy metabolism was described in a patient here at Cincinnati Children's: creatine transporter deficiency. Subsequently several more patients were found locally. Our presentations and publications also increased awareness of this disorder at other locations. Now the creatine transporter deficiency has been recognized as the most common inborn error of creatine metabolism.
We continue to study this disorder in collaboration with the Department of Radiology at Cincinnati Children's, as well as the Metabolic Laboratory at the Free University, The Netherlands. - Drs. Michael Miles and Peter Tang continue pharmacokinetic studies with CoEnzyme Q10 at Cincinnati Children's.
Contact Us
For more information about the Neurometabolic Program at Cincinnati Children's, please contact Ton deGrauw, MD, PhD, (ton.degrauw@cchmc.org), 513-636-4222.
