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- Title
Bachmann–Bupp syndrome and treatment.
- Authors
Bachmann, André S.; VanSickle, Elizabeth A.; Michael, Julianne; Vipond, Marlie; Bupp, Caleb P.
- Abstract
Bachmann–Bupp syndrome (BABS) is a neurodevelopmental disorder characterized by developmental delay, hypotonia, and varying forms of non‐congenital alopecia. The condition is caused by 3′‐end mutations of the ornithine decarboxylase 1 (ODC1) gene, which produce carboxy (C)‐terminally truncated variants of ODC, a pyridoxal 5′‐phosphate‐dependent enzyme. C‐terminal truncation of ODC prevents its ubiquitin‐independent proteasomal degradation and leads to cellular accumulation of ODC enzyme that remains catalytically active. ODC is the first rate‐limiting 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‐rare condition with few reported cases, but it serves as a convincing example for drug repurposing therapy. α‐Difluoromethylornithine (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.
- Subjects
NEUROBLASTOMA; AFRICAN trypanosomiasis; ORNITHINE decarboxylase; MUSCLE tone; HAIR growth; DRUG repositioning
- Publication
Developmental Medicine & Child Neurology, 2024, Vol 66, Issue 4, p445
- ISSN
0012-1622
- Publication type
Article
- DOI
10.1111/dmcn.15687