Amy Goldstein, MD

Amy Goldstein, MD, Center for Rare Disease Therapy
Director, Neurogenetics and Metabolism

Mitochondrial diseases are so rare that most doctors are unlikely to encounter more than one patient with a mitochondrial disease in a professional lifetime. As a pediatric intern just out of medical school, Amy Goldstein, MD, encountered not one but two patients with these rare disorders – and this experience set her on the career path she has pursued ever since.

“I was struck by how mysterious these diseases were,” Dr. Goldstein recalls. “From then on I knew I wanted to be a pediatric neurologist with a specialty in mitochondrial diseases.”

The mitochondria are energy-making factories inside human cells. They create most of the energy the body needs to sustain life and support growth. Mitochondrial diseases occur when one or more genetic mutations result in the mitochondria failing to create enough energy to support the body, causing damage to the brain, heart, kidneys, muscles, or other organ systems. In children, mitochondrial diseases may produce a wide range of symptoms, including heart or liver failure, frequent infections, failure to grow normally, and developmental regression.

After graduating from the University of Pittsburgh Medical School in 1996, Dr. Goldstein completed a residency in pediatrics at Mercy Hospital Medical Center in Pittsburgh and a residency in child neurology at the University of Pittsburgh Medical Center. She holds certifications from both the American Board of Pediatrics and the American Board of Neurology and Psychiatry and is an author of 20 published medical journal articles about mitochondrial diseases. As president of the Mitochondrial Medicine Society, she is actively involved in efforts to develop standards of care for the treatment of these diseases.

Dr. Goldstein’s expertise in mitochondrial diseases brings patients from across the United States as well as from other countries to be seen at her Comprehensive Mitochondrial Clinic. She is also actively involved in the United Mitochondrial Disease Foundation, which funds research on mitochondrial diseases and provides support to patients and their families.

The rarity of mitochondrial diseases makes it challenging to conduct research aimed at finding effective treatments for these disorders. Dr. Goldstein is at the forefront of efforts to change that. She directs the North American Mitochondrial Disease Consortium, a database that is collecting information about patients with mitochondrial diseases throughout the United States and Canada. In addition to providing valuable information about these patients, this resource will also enable patients to be contacted when a clinical trial becomes available to test a potential new treatment.

Dr. Goldstein is currently working closely with Dr. Jerry Vockley, chief of medical genetics and director of the Center for Rare Disease Therapy (CRDT) at Children’s Hospital of Pittsburgh of UPMC, on trials of two novel medications for mitochondrial diseases. Children’s is one of just four centers nationwide offering these trials to patients.

Mitochondrial diseases can cause a wide variety of symptoms and can affect any organ system in the body and usually more than one. Because of this heterogeneity, patients benefit from undergoing a multidisciplinary evaluation, explains Dr. Goldstein. The CRDT specializes in just such a multidisciplinary approach, coordinating patient and family visits with multiple specialists and discussing every patient’s case in a multidisciplinary case conference. Dr. Goldstein also works closely with the CRDT’s organ transplant team when an organ transplant is a treatment option for a patient with a mitochondrial disease.

“The level of multidisciplinary collaboration found here makes the Center for Rare Disease Therapy a very special place,” she says.