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Article

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.

American journal of medical genetics. Part A - 1 May 2026

VanSickle Elizabeth A, Sarasua Sara M, Lowe Tracy, Farrell Christopher L, Boccuto Luigi, Schwartz Charles, Pegg Anthony E, Peron Angela, Faundes Victor, Ganapathi Mythily, Chung Wendy K, Ziegler Alban, Hofstede Floris, Prouteau Clément, Steindl Katharina, Olson Colleen, Devinsky Orrin, Mastracci Teresa L, Casero Robert A, Stewart Tracy Murray, Gilmour Susan, Koerner Teri, Kutler Mary Jo, Rajasekaran Surender, Michael Julianne, Bachmann André S, Bupp Caleb P

Abstract excerpt

Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder-Robinson syndrome results from hemizygous loss-of-function variants in the spermine synthase (SMS) gene, resulting in decreased or complete loss of spermine synthase enzyme activity. Bachmann-Bupp syndrome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41410504
DOI: 10.1002/ajmga.70029
PMCID: PMC13270430

Genes

DHPS
DOHH
EIF5A
ODC1
SMS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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