ECHS1 Deficiency is a recently identified inborn error of valine and fatty acid metabolism. It is a progressive neurodegenerative disorder with no treatment or cure. ECHS1 Deficiency and Leigh Syndrome are mitochondrial diseases. Mitochondrial diseases affect the ability of our body to break down food (metabolize) in order to produce energy. Most of the children...
Noel was 6 weeks old when my mother's heart was watching for strange signs! These were the first signs that something was 100% wrong with Noel! He didn't hold his head in the normal way, and then I noticed that he didn't hold any of his hands properly! I wanted to be sure, so I asked a Doctor, Dr. László Ritli, who has great authority in Oradea! I knew I would be in good hands if I approached him with my fears. The first diagnosis was immediate: Hypotonia - loose muscle. Even this news was shocking, and the doctor was immediately directing me to neurologist.
