Kristen Skvorak, Vesna Mitchell, Leann Teadt, Kierra A Franklin, Hyung-Ok Lee, Nikki Kruse, Callie Huitt-Roehl, Julie Hang, Faye Du, Stephanie Galanie, Steven Guan, Hera Aijaz, Nianliu Zhang, Gabriel Rajkovic, Warren D Kruger, Moulay Hicham Alaoui Ismaili, Gjalt Huisman, Kerryn McCluskie, Adam P Silverman
Classical homocystinuria (HCU) is a rare inborn error of amino acid metabolism characterized by accumulation of homocysteine, an intermediate product of methionine metabolism, leading to significant systemic toxicities, particularly within the vascular, skeletal, and ocular systems. Most patients require lifelong dietary therapy with severe restriction of natural protein to minimize methionine intake, and many patients still struggle to maintain healthy homocysteine levels. Since eliminating methionine from the diet reduces homocysteine levels, we hypothesized that an enzyme that can degrade methionine within the gastrointestinal (GI) tract could help HCU patients maintain healthy levels while easing natural protein restrictions...
August 2023: Molecular Genetics and Metabolism