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The condition is caused by 3\u2032\u2010end mutations of the ornithine decarboxylase 1 (\n                    <jats:italic>ODC1<\/jats:italic>\n                    ) gene, which produce carboxy (C)\u2010terminally truncated variants of ODC, a pyridoxal 5\u2032\u2010phosphate\u2010dependent enzyme. C\u2010terminal truncation of ODC prevents its ubiquitin\u2010independent proteasomal degradation and leads to cellular accumulation of ODC enzyme that remains catalytically active. ODC is the first rate\u2010limiting enzyme that converts ornithine to putrescine in the polyamine pathway. Polyamines (putrescine, spermidine, spermine) are aliphatic molecules found in all forms of life and are important during embryogenesis, organogenesis, and tumorigenesis. BABS is an ultra\u2010rare condition with few reported cases, but it serves as a convincing example for drug repurposing therapy. \u03b1\u2010Difluoromethylornithine (DFMO, also known as eflornithine) is an ODC inhibitor with a strong safety profile in pediatric use for neuroblastoma and other cancers as well as West African sleeping sickness (trypanosomiasis). Patients with BABS have been treated with DFMO and have shown improvement in hair growth, muscle tone, and development.\n                  <\/jats:p>","DOI":"10.1111\/dmcn.15687","type":"journal-article","created":{"date-parts":[[2023,7,20]],"date-time":"2023-07-20T00:45:22Z","timestamp":1689813922000},"page":"445-455","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Bachmann\u2013Bupp syndrome and treatment"],"prefix":"10.1111","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6510-8560","authenticated-orcid":false,"given":"Andr\u00e9 S.","family":"Bachmann","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Human Development, College of Human Medicine Michigan State University  Grand Rapids MI USA"},{"name":"International Center for Polyamine Disorders  Grand Rapids MI 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