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Tay-Sachs (aka Sphingolipidosis, Hexosaminidase A deficiency)

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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