Two New Cases of Bachmann-Bupp Syndrome Identified through the International Center for Polyamine Disorders.

ABSTRACT: Recent identification of four additional polyaminopathies, including Bachmann-Bupp syndrome, have benefited from previous research on Snyder-Robinson syndrome in order to advance from research to treatment more quickly. As a result of the discovery of these conditions, the potential for treatment within this pathway, and for other possible unidentified polyaminopathies, the International Center for Polyamine Disorders (ICPD) was created to help promote understanding of these conditions, research opportunities, and appropriate care for families. This case study provides insights from two new patients diagnosed with Bachmann-Bupp syndrome, further expanding our understanding of this ultra-rare condition, as well as a general discussion about other known polyaminopathies. This work also prese

SUBMITTER: Michael J 

PROVIDER: S-EPMC10123676 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature