Article

A novel homozygous GLB1 pathogenic variant identified in two cases of infantile GM1 gangliosidosis

2026-08-03

Abstract excerpt

GM1 gangliosidosis is a rare genetic disorder that affects lysosomes. It is caused by variants in the GLB1 gene, which leads to a lack of the enzyme β-galactosidase. The infantile form (Type I) is the most severe. It begins in the first months of life and has a poor prognosis. We report two cases of infantile GM1 gangliosidosis from two consanguineous families.Patient I, evaluated at 9 months, showed developmental...

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Literature Corpus work: dab7ff56-8601-5820-95c8-48724dfe4325
DOI: 10.1186/s13039-026-00754-7

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