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

Studysummary This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development. Our plain-language summary of this paper — not a Tressless recommendation.

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”

This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.

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”

This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.

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”

This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.

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”

This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.

research Medical Treatment of Hirsutism

66 citations , September 2008 in “Dermatologic therapy”

This review discusses medical treatments for hirsutism, focusing on oral contraceptives and other therapies, but reports no new results; the authors emphasize the lack of evidence for insulin sensitizers in treating hirsutism alone.

research Ornithine Decarboxylase Overexpression Is a Sufficient Condition for Tumor Promotion in Mouse Skin

233 citations , July 1997 in “PubMed”

In this study, targeting ornithine decarboxylase overexpression to hair follicle keratinocytes in mice was sufficient to promote skin tumor development without additional tumor promoters.

research Modulation of Murine Hair Follicle Function by Alterations in Ornithine Decarboxylase Activity

71 citations , May 1996 in “Journal of Investigative Dermatology”

This study found that overexpression of a mutated ornithine decarboxylase transgene in mice led to complete hair loss, which could be prevented or reversed with an ODC inhibitor.