Scientists from La Trobe University have received nearly $140,000 from rare diseases charity Archie’s Embrace to investigate an under-researched rare genetic disorder with caused early-onset neurodegeneration in babies.
Archie’s Embrace Director Ros Melling hopes the research will open doors to finding new ways of improving symptoms, decreasing suffering, and increasing lifespan for children who have ECHS1 deficiency.
The disorder causes a deficiency of the enzyme ECHS1, leaving the body unable to digest and use certain amino acids and fatty acids – nutrients that are crucial in providing the body with the energy it needs to grow.
“Gaining the science and research and strengthening knowledge on how to improve quality of life for these children is powerful. Many parents are told at the time of diagnosis that there is little hope, as there is currently no treatment. Research and data are limited, and this is what is needed to change treatment at the patient face by medical teams,” Ms Melling said.
Research leader Dr Travis Johnson and postdoctoral researcher Dr Sarah Mele, from the La Trobe Institute for Molecular Science (LIMS) and the School of Agriculture, Biomedicine and Environment, said their aim is to gain a better understanding of the disorder to open avenues of research for new treatments.
“ECHS1 deficiency affects so few people, which makes it near impossible to devise and test treatments in the clinic. The ECHS1 enzyme has emerged as a critical player in several aspects of metabolism, and this has made it difficult to pinpoint the precise causes of the disorder. Understanding these is critical for treatment development,” Dr Johnson said.
ECHS1 deficiency affects less than one in 250,000 babies and children annually, and is one of more than 1400 rare Inherited Metabolic Disorders (IMDs).
Stemming from genetic mutations passed down from the baby’s parents, ECHS1 deficiency leaves the body unable to break down and use the amino acid Valine as well as essential fatty acids – both growth-promoting nutrients delivered to the body via food.
When the body is unable to break these nutrients down, not only does it not have enough energy to grow, it also experiences a toxic build-up of Valine compounds. As a result, the structures in the body and brain begin to degenerate.
