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Article

Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency.

Neuropediatrics - 1 Apr 2017

Brackmann Florian, Kehrer Christiane, Kustermann Wibke, Böhringer Judith, Krägeloh-Mann Ingeborg, Trollmann Regina

Abstract excerpt

GM2 gangliosidosis, AB variant, is a very rare form of GM2 gangliosidosis due to a deficiency of GM2 activator protein. We report on two patients with typical clinical features suggestive of GM2 gangliosidosis, but normal results for hexosaminidase A and hexosaminidase B as well as their corresponding genes. Genetic analysis of the gene encoding the activator protein, the GM2A gene, elucidated the cause of the...

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PMID: 28192816
DOI: 10.1055/s-0037-1598646

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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