TLDR DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
Bachmann–Bupp syndrome (BABS) is a rare genetic disorder caused by mutations in the ODC1 gene, leading to symptoms such as non-congenital alopecia, hypotonia, developmental delays, and seizures. With fewer than 30 known cases worldwide, treatment with α-difluoromethylornithine (DFMO) has shown significant clinical improvements by normalizing putrescine levels and improving symptoms. The rapid development and implementation of DFMO treatment, including hair regrowth and motor skill development, underscore the potential of genetic diagnoses and precision medicine in treating rare diseases. Ongoing research and patient follow-up are essential to fully understand BABS and develop more potent treatments.
11 citations,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
15 citations,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
28 citations,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
39 citations,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
66 citations,
September 2008 in “Dermatologic therapy” The conclusion is that the best initial treatment for hirsutism is usually oral contraceptives, with the addition of antiandrogens or insulin sensitizers if needed, and topical eflornithine or laser treatments as supplementary options.
233 citations,
July 1997 in “PubMed” High levels of ornithine decarboxylase can cause tumors in mouse skin.
71 citations,
May 1996 in “Journal of Investigative Dermatology” Ornithine decarboxylase is crucial for hair growth regulation in mice.
11 citations,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
233 citations,
July 1997 in “PubMed” High levels of ornithine decarboxylase can cause tumors in mouse skin.
39 citations,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
