Sandhoff Disease
Pathogenesis (Lysosomal Storage Disorder)
- Beta-Hexosaminidase deficiency leads to toxic accumulation of fatty substances (GM 2 Ganglioside) and sugars within lysosomes.
Clinical
- Neurological manifestations: Cognitive Delay, Seizures, Psychomotor Retardation, Cherry-red spot.
Genetics
- HEX gene mutation
- Autosomal recessive
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov