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News for Healthier Living
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 the November 13 online issue of Science Advances [DOI: 10.1126/sciadv.aej2268]. The researchers studied AASS (alpha aminoadipic semialdehyde synthase), an enzyme involved in breaking down the amino acid lysine and identified a region that regulates its activity. The findings provide new structural insights that could help guide the development of drugs to inhibit AASS and reduce the buildup of harmful metabolites associated with GA1.
November 13, 2026
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