While the name “late-onset Tay-Sachs disease” is often used, it should more properly be called late-onset hexosaminidase A deficiency. Dr. L. What is the mechanism that causes the disease?

In the case of carrier screening for Tay–Sachs disease (hexosaminidase deficiency, which is most prevalent in persons of Eastern European Jewish ancestry), the hexosaminidase enzyme assay ...

Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder.In its most common variant known as infantile Tay ...

Summary: Serum samples from two unrelated, clinically normal individuals lacked detectable hexosaminidase A by heat inactivation and electrophoretic analysis. In contrast, 15 and 17% of the ...

People with LOTS have some enzyme activity, but, over time, hexosaminidase A deficiency causes fats to build up in the brain and nerve cells. It’s this buildup of fats that causes progressive ...

The build-up of gangliosides occurs because of a deficiency of the catabolic enzyme hexosaminidase A. The cherry-red spot of central retinal artery occlusion can be distinguished from that of ...

Sandhoff disease (SD) is caused by deficiency of N-acetyl-β-hexosaminidase (Hex) resulting in pathological accumulation of GM2 ganglioside in lysosomes of the central nervous system (CNS ...

Tay-Sachs Disease is a progressive and fatal genetic condition that involves a complete deficiency of the hexosaminidase-A (HEXA) enzyme. This enzyme is needed in healthy individuals for the ...

A deficiency of the enzyme beta-hexosaminidase (HexA) causes Tay-Sachs disease. GM2 ganglioside is a fatty substance that is part of the body’s normal functioning, but it needs to be broken down.