Short‐chain enoyl‐CoA hydratase (SCEH or ECHS1) deficiency is a rare inborn error of metabolism caused by biallelic mutations in the gene ECHS1.
Clinical presentation includes infantile‐onset severe developmental delay, regression, seizures, elevated lactate, and brain MRI abnormalities consistent with Leigh syndrome.
Leigh syndrome is a severe neurodegenerative disease which typically presents itself during infancy or early childhood and has a poor prognosis. The condition leads to vision, renal, cardiac and respiratory complications, typically resulting in death in a few years.
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 affected by a mitochondrial disease don’t even have the energy to walk or talk. They are in great danger during infections and illnesses as mitochondria can be found in all the cells and it should produce energy. When it doesn’t work properly, the organs like the heart, liver, kidneys start to shut down because there isn’t enough energy to protect the body from the virus and to maintain the functions of the organs in the same time.
Currently there is no treatment or cure for ECHS1 Deficiency or other mitochondrial diseases.