Our mission
We want to help find a cure for ECHS1 deficiency (ECHS1D) and make a difference to the lives of other children with this devastating disease. Our dream would be to see babies affected by this disease diagnosed and treated early – before the onset of any potentially fatal symptoms.
More about ECHS1 deficiency (ECHS1D)
ECHS1D is a rare genetic inherited disorder.
Disease-causing variants in the ECHS1 gene cause reduced activity of an enzyme (short-chain enoyl-CoA hydratase) involved in breaking down fat and protein to make energy in the body. Toxic metabolites are produced when the body attempts to breakdown the amino acid valine. Symptoms of ECHS1 deficiency are caused by these toxic metabolites and the body running out of energy.
Mitochondrial disorders are caused by defects in mitochondria, which are energy factories found inside almost all the cells in the body. There are many types of mitochondrial disorders. They can affect one part of the body or many parts, including the brain, muscles, kidneys, heart, eyes, and ears.
Because muscle and nerve cells have especially high energy needs, muscular and neurological problems are common features of mitochondrial disorders.
Mitochondrial disorders
Symptoms of ECHS1D include
Seizures, dystonia, neuroregression (loss of skill), sensorineural hearing loss, optic atrophy, failure to thrive and heart problems.
ECHS1D is a progressive condition and the prognosis is generally poor. The majority of those affected develop severe symptoms when they are babies.
Children classically develop worsening symptoms and brain injury during febrile illnesses.
ECHS1D is an incurable condition but recent evidence suggests that a valine-restricted diet and management of illness and fasting, can improve outcomes.
Prevalence in Aotearoa
Recent studies have shown that ECHS1D is more prevalent in New Zealand, in Māori and Pacific populations.
This makes it even more important for the children of Aotearoa to help find a cure for this rare disease.