32. Tay Sachs (GM2 gangliosidosis) Flashcards

1
Q

**What is Tay-Sachs (GM2 gangliosidosis)

A
  • Lack of enzyme that breaks down fatty substance, building up toxic levels in the brain and affect the function of the nerve cells in the brain and spinal cord.
  • *- destroys nerve cells in brain/spinal cord
  • Loss of muscle control, cherry-red spots in the eyes
  • Loss of motor skills, such as turning over, crawling, and sitting up.
  • loss of vision/hearing loss
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2
Q

**Who does Tay-Sachs affect the most & why

A

Ashkenazi Jewish

- b/c they lack enzyme that ↓ down fatty substances/allows toxic build up in the brain

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