Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency
| Autor: | Regina Trollmann, Ingeborg Krägeloh-Mann, Judith Böhringer, Florian Brackmann, Wibke Kustermann, Christiane Kehrer |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
endocrine system
030209 endocrinology & metabolism Gangliosidosis medicine.disease_cause Retina Diagnosis Differential 03 medical and health sciences 0302 clinical medicine Gangliosidoses GM2 030225 pediatrics Sphingolipidoses medicine Humans Hexosaminidase GM2A Gene Genetics Mutation biology G(M2) Activator Protein Tay-Sachs disease Brain Infant General Medicine medicine.disease Hexosaminidase B Molecular biology carbohydrates (lipids) Pediatrics Perinatology and Child Health biology.protein lipids (amino acids peptides and proteins) Female Neurology (clinical) |
| Zdroj: | Neuropediatrics. 48(2) |
| ISSN: | 1439-1899 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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