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Hexosaminidase A and B Deficiency

Last updated Oct. 27, 2020

Approved by: Krish Tangella MD, MBA, FCAP

Sandhoff Disease is a rare, inherited disorder (autosomal recessive) that occurs due to an enzyme deficiency. Young children are affected the most by this disorder.


The topic Hexosaminidase A and B Deficiency you are seeking is a synonym, or alternative name, or is closely related to the medical condition Sandhoff Disease.

Quick Summary:

  • Sandhoff Disease is a rare, inherited disorder (autosomal recessive) that occurs due to an enzyme deficiency. Young children are affected the most by this disorder
  • Enzymes are proteins in the body that allow specific biochemical reactions to occur. During a biochemical reaction, the enzymes act on a particular substrate (a substance) and it results in the production of a particular product (substratum)
  • Sandhoff Disease is a disease categorized as a lysosomal storage disorder (LSD)
    • Lysosomes are cellular components present inside the cytoplasm of cells
    • In lysosomal storage disorders, certain enzymes that should be present within the lysosomes are absent (or deficient). This results in the accumulation of a particular substrate
    • The substrate in Sandhoff Disease are GM2 ganglioside and globoside (glycosphingolipids)
    • The excess substrate thus accumulated, affects the function of the cell, and the cell eventually dies, leading to the death of tissues and manifestation of the disorder
  • There are several different types of LSD. One among them is a group of disorders called GM2 gangliosidoses (singular - gangliosidosis). The 3 disorders present in this group are:

    • Tay-Sachs disease, where there is a deficiency of enzyme β-hexosaminidase A
    • Sandhoff Disease, where there is deficiency of enzymes β-hexosaminidase A and β-hexosaminidase B
    • GM2 gangliosidosis variant AB, occurring due to deficiency of GM2 activator protein
  • Sandhoff Disease is a progressive condition primarily affecting the central nervous system. It has been reported in certain regions and in certain populations
  • Presently, there is no curative treatment available for this condition. The prognosis of Sandhoff disease is not favorable; in children, death usually occurs by age 3

Please find comprehensive information on Sandhoff Disease regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: June 16, 2017
Last updated: Oct. 27, 2020