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Results 1 - 5 of 5 for "Tay-Sachs" "disease," b "variant," infantile form
  1. Tay-Sachs disease 
    ... hexosaminidase A enzyme function likely lead to the infantile form of Tay-Sachs disease, and variants that allow some residual enzyme activity ...
    https://medlineplus.gov/genetics/condition/tay-sachs-disease - Genetics
  2. HEXA gene 
    ... beta-hexosaminidase A. These variants cause a severe form of Tay-Sachs disease, known as infantile Tay-Sachs disease, which appears in infancy. Other ...
    https://medlineplus.gov/genetics/gene/hexa - Genetics
  3. Sandhoff disease 
    ... symptoms first appear: infantile, juvenile, and adult.The infantile form of Sandhoff disease is the most common and ... organs (organomegaly), or bone abnormalities. Children with the infantile form of Sandhoff disease usually live only into early ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
  4. GM2 activator deficiency 
    ... individuals with GM2 activator deficiency have the acute infantile form of the disease. Signs and symptoms of acute ... with an eye examination, is characteristic of the infantile form of this disorder. Infants with acute infantile GM2 ...
    https://medlineplus.gov/genetics/condition/gm2-activator-deficiency - Genetics
  5. HEXB gene 
    ... B: understanding the molecular basis of Sandhoff and Tay-Sachs disease. J Mol Biol. 2003 Apr 11;327(5): ... J, Rostami P. Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients ...
    https://medlineplus.gov/genetics/gene/hexb - Genetics