Sandhoff disease
ICD-10 Code
E75.01
Sandhoff disease
Definition
A lysosomal disorder from the GM2 gangliosidosis family, caused by biallelic pathogenic variants in the HEXB gene, characterized by GM2 ganglioside accumulation in the nervous system and progressive central nervous system degeneration.
Also known as GM2 gangliosidosis 0 variant, GM2 gangliosidosis, 0 variant, Hexosaminidases A and B deficiency, Sandhoff disease, Sandhoff Jatzkewitz disease — per MONDO