Tay-Sachs (aka Sphingolipidosis, Hexosaminidase A deficiency)
Pathogenesis (Lysosomal Storage Disorder)
- Beta-Hexosaminidase A deficiency results in failure of breakdown of GM 2 ganglioside, which leads to toxic accumulation of this fatty substance, which builds-up in the brain and spinal cord.
Clinical
- Onset: Infancy (3 – 6 Months)
- Presentation: Developmental Regression, Loud Startle Response, Motor Impairment, Cognitive Delay, Cherry-Red Spot
Genetics
- HEXA gene mutation
- Autosomal recessive
- Ashkenazi Jewish Population
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov