New Drug Targets for Rare Metabolic Disease Identified

Study maps enzyme target for potential treatment of rare genetic disorder

Researchers at the Icahn School of Medicine at Mount Sinai have mapped an enzyme that could be targeted to develop new treatments for glutaric aciduria type 1 (GA1), a rare genetic disorder that can lead to brain damage, revealing new details about how the enzyme works and how its activity is controlled.

New Drug Targets for Rare Metabolic Disease Identified

A new structural map of the AASS enzyme could help researchers develop treatments for glutaric aciduria type 1. Building on promising animal studies, the findings identify molecular mechanisms that could be exploited to prevent harmful metabolite accumulation.

Mapping an enzyme offers clues to treating rare genetic disease

Researchers at the Icahn School of Medicine at Mount Sinai have mapped an enzyme that could be targeted to develop new treatments for glutaric aciduria type 1 (GA1), a rare genetic disorder that can lead to brain damage, revealing new details about how the enzyme works and how its activity is controlled. The findings were published in Science Advances.

Mount Sinai Maps AASS Enzyme Structure for GA1 Therapy

Researchers at Mount Sinai have mapped the AASS enzyme structure, identifying a regulatory region that could guide the development of new treatments for the rare genetic disorder glutaric aciduria type 1.