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Neuropediatrics 2017; 48(02): 127-130
DOI: 10.1055/s-0037-1598646
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency

Florian Brackmann
1   Division of Neuropediatrics, Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany
,
Christiane Kehrer
2   Department of Pediatric Neurology, University Children's Hospital, Tübingen, Germany
,
Wibke Kustermann
1   Division of Neuropediatrics, Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany
,
Judith Böhringer
2   Department of Pediatric Neurology, University Children's Hospital, Tübingen, Germany
,
Ingeborg Krägeloh-Mann
2   Department of Pediatric Neurology, University Children's Hospital, Tübingen, Germany
,
Regina Trollmann
1   Division of Neuropediatrics, Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany
› Author Affiliations
Further Information

Publication History

14 October 2016

22 December 2016

Publication Date:
13 February 2017 (online)

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Abstract

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 disease, adding a novel mutation to the spectrum of GM2 AB variant. This report points out that in typical clinical constellations with normal enzyme results, genetic diagnostic for activator protein defects should be performed.

Keywords

sphingolipidoses - GM2 gangliosidosis - activator protein - Tay–Sachs' disease
 

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