A new pediatric neuro-metabolic disorder has been discovered at Sheba Medical Center. An international team led by Prof. Bruria Gidoni- Ben-Zeev, head of the Pediatric Neurology Department at Sheba, and Dr. Gali Heimer, a physician in the same department, made the discovery. The team featured extensive cooperation among physicians and researchers from the United States, Israel, Finland, Australia, and Italy.
The disease strikes those in early childhood, beginning with uncontrolled and repetitive muscle contractions called dystonia. These symptoms are accompanied by unique signs seen on MRI brain imaging. The disease progresses over several years and cause optic nerve damage with a significant reduction in vision but apparently without cognitive decline
This study was recently published in the leading journal The American Journal of Human Genetics and has a number of important implications. A gene that had not previously been identified as being responsible for a disease in humans showed damage in the presence of the disease. Furthermore, an entire metabolic pathway that had not yet been connected to disease in humans was involved. Specifically, this pathway is responsible for the production of fatty acids within mitochondria, the power plants of cells.
Due to these discoveries, it is expected that further patients with defects in the same gene, or in other genes associated with the same pathway, will be diagnosed in the near future.
Additionally, preliminary evidence suggests that this disease is more prevalent in populations of Ashkenazi Jewish origin. It is still necessary to confirm this first impression by examining larger populations.
Based on their understanding of the metabolic pathway involved in this disease, Prof. Gidoni- Ben-Zeev and Dr. Haimer, in collaboration with researchers from abroad, offer potential treatment with the use of nutritional supplements. The team plans a continuing study to evaluate this approach. This study will be performed both in a laboratory setting and with patients, in conjunction with Prof. Yair Anikster from the Edmond and Lily Safra Children’s Hospital at Sheba.
Contact Sheba Medical Center for a consultation about pediatric neurology diagnosis and treatment today.