Biallelic pathogenic variants in the HEXB gene cause<unk> . The gene provides instructions for making a protein crucial to the enzymes beta-hexosaminidase A and beta-hexosaminidase B, which function in nerve cells to break down fatty substances, complex sugars, and molecules that are linked to sugars. In particular, beta-hexosaminidase A breaks down a fatty compound called GM2 ganglioside. Mutations in the HEXB gene disrupt the activity of these enzymes, preventing the breakdown of GM2 ganglioside and other molecules. As a result, progressive damage caused by the resulting buildup of GM2 ganglioside leads to the destruction of nerve cells, causing the signs and symptoms associated with<unk> .
Sandhoff disease
Tay–Sachs disease
Stratton Parker syndrome
Menkes disease
Gerstmann–Sträussler–Scheinker syndrome
Scheie syndrome
Aceruloplasminemia
Batten disease