Bachmann–Bupp Syndrome and Treatment

July 2023 in “ Developmental medicine and child neurology/Developmental medicine & child neurology ”

André S. Bachmann, Elizabeth VanSickle, Julianne Michael, Marlie Vipond, Caleb Bupp

Bachmann–Bupp syndrome ODC1 gene non-congenital alopecia α-difluoromethylornithine DFMO putrescine BABS hair regrowth

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.

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Research cited in this study

7 / 7 results

research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome

11 citations, September 2021 in “American Journal of Medical Genetics Part A”

Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.

research Biochemical Features of Primary Cells from a Pediatric Patient with a Gain-of-Function ODC1 Genetic Mutation

15 citations, June 2019 in “Biochemical Journal”

A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.

research Gain-Of-Function Variants In The ODC1 Gene Cause A Syndromic Neurodevelopmental Disorder Associated With Macrocephaly, Alopecia, Dysmorphic Features, And Neuroimaging Abnormalities

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.

research Novel De Novo Pathogenic Variant in the ODC1 Gene in a Girl with Developmental Delay, Alopecia, and Dysmorphic Features

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.

research Medical Treatment of Hirsutism

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.