Home-monitoring of specific branched chain amino acids
Awardee: Lital Alfonta
Institution: Ben-Gurion University of the Negev
Grant Amount: $71,985.00
Funding Period: February 1, 2023 - January 31, 2024
Summary:
The project aims at developing a non-invasive home test for immediate monitoring of the orphan condition Maple Syrup Urine Disease (MSUD). MSUD is a serious genetic condition caused by a deficiency or a mutation in the enzyme keto-acid-dehydrogenase. Blood tests show high levels of three amino acids (leucine, isoleucine and valine), that can lead to life-threatening cerebral oedema and dysmyelination in affected individuals. The disease is more common in Ashkenazi Jews, and in the Bedouin population in the South region of Israel. Children with MSUD must remain on a special diet that restricts the consumption of those three amino acids. Currently, the amino acid levels of children with MSUD are monitored weekly at the hospital, and the results arrive only after several days. We propose to develop a technology based on bioelectrochemistry, which combines optimization of protein function with synthetic biology tools in order to create accurate and specific sensors for immediate monitoring of the relevant amino acids. This will enable real-time diet recommendations and forgo the need for a weekly hospital visit. In addition, neonates are routinely scanned for amino acid levels, and the novel technology can supply immediate results. Immediate monitoring of amino acids is especially crucial in the developmental phase of people (i.e. children and neonates).