About the Neurometabolic and Leukodystrophy Clinic at Rady Children’s Health
The Neurometabolic Clinic provides diagnosis and management for children and young adults with metabolic disorders affecting the nervous system, in particular primary mitochondrial disorders. Patients are referred from San Diego, Imperial, and Riverside counties, as well as from across the United States, Canada, and internationally.
The majority of patients are referred for evaluation of suspected mitochondrial disease and patients with leukodystrophies who require longitudinal neurological follow up. Evaluation typically includes a comprehensive medical history, detailed neurological examination, and advanced metabolic and genetic testing. Patients seeking evaluation for other inborn errors of metabolism including amino acidopathies, lysosomal storage diseases, glycogen storage diseases should be referred to the Genetics/Metabolics Clinic.
The clinic is co-directed by Dr. Richard Haas and Dr. Jennifer Yang. Dr. Yang is the Director of the national Mitochondrial Care Network and directs the Neurometabolic Multidisciplinary Care Clinic.
Dr. Haas also serves as Director and Principal Investigator for the North American Mitochondrial Disease Consortium (NAMDC) training fellowship, focused on developing clinician-scientists who advance new treatments for mitochondrial disease. Clinical trials, as well as enrollment in the NAMDC registry and biorepository, are available for select patients.
Mitochondrial Disease Overview
Mitochondria are often described as the body’s “energy makers.” They help convert nutrients from food into usable energy that cells need to function. When mitochondria don’t work as expected, it can lead to mitochondrial disease. Because there are different causes and different parts of the body may be affected, mitochondrial disease can look very different from one person to another.
Symptoms are often more noticeable in organs and tissues that require a lot of energy — such as the brain and nervous system, muscles, and the digestive system.
What Causes Mitochondrial Disease?
Mitochondrial disease is often related to changes in DNA (sometimes called genetic variants or mutations). These changes can affect how the body builds proteins that support mitochondrial function. In general, there are two sources of DNA that may be involved:
- Nuclear DNA (nDNA): DNA inherited from both parents, found in nearly every cell. Many genes in nuclear DNA help support how mitochondria function.
- Mitochondrial DNA (mtDNA): DNA found inside the mitochondria themselves. This is typically inherited through the mother and contains genes that support mitochondrial energy production.
How We Help
While there are currently limited FDA-approved medications specifically for mitochondrial disease, care is focused on building an individualized plan based on each patient’s needs and symptoms. This may include supportive strategies such as nutrition and hydration planning, safe activity guidance, tools or therapies to support daily function, and recommendations to reduce stressors that can worsen symptoms.
Our patients will have an opportunity to speak to our team members about participation in observational research (national and local patient registries and biorepositories), cutting-edge translational research, and clinical trials.
Team
Richard Haas, M.D., Co-Director
Jennifer Yang, M.D., Co-Director, Assistant Clinical Professor of Neurosciences
Gail Reiner, PNP
Imai Reza, Nurse
Sherlyn Alcala, Clinic Administrator