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Novel HEXB variant and first evidence of urinary Gb4 isoforms in Sandhoff disease: Biochemical and bioinformatic characterization in two Moroccan families.

Analytical biochemistry - 1 Sept 2026

Hammoud Miloud, Rodrigues Alice M S, Assiri Imane, Najeh Samira, Jakani Maroua, Berrachid Abdelaati, Sabir Es-Said, Lafhal Karima, El Foutat Sana, Bourrous Mounir, Elamiri My Ahmed, Houël Emeline, Stien Didier, Fdil Naima

Abstract excerpt

Sandhoff disease is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of β-hexosaminidases A and B. These enzymes play a key role in the degradation of ganglioside GM2, GA2, globoside Gb4, and other glycolipids in neuronal and visceral tissues. Clinically, it is almost indistinguishable from Tay-Sachs disease, another disorder affecting hexosaminidase activity. We investigated two...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42167572
DOI: 10.1016/j.ab.2026.116157

Genes

HEXB

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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