Hexosaminidase A

Definition

Hexosaminidase A is an enzyme that hydrolyzes GM2 gangliosides, a type of glycolipid in nerve cells. Deficiency in this enzyme leads to the accumulation of GM2 gangliosides, causing neurological disorders such as Tay-Sachs disease.

5 Must Know Facts For Your Next Test

1. Hexosaminidase A deficiency is primarily associated with Tay-Sachs disease.
2. The enzyme plays a critical role in breaking down GM2 gangliosides in the lysosomes of neurons.
3. Mutations in the HEXA gene cause Hexosaminidase A deficiency.
4. Symptoms of Hexosaminidase A deficiency include loss of motor skills, seizures, and developmental delays.
5. There is currently no cure for Tay-Sachs disease; treatment focuses on managing symptoms and providing supportive care.

Review Questions

• What neurological disorder is most commonly associated with Hexosaminidase A deficiency?
• Which gene mutation causes Hexosaminidase A deficiency?
• What are common symptoms observed in individuals with Hexosaminidase A deficiency?

Related terms

Tay-Sachs Disease: An inherited neurodegenerative disorder caused by a deficiency in Hexosaminidase A.

GM2 Ganglioside: A glycolipid that accumulates in neurons due to Hexosaminidase A deficiency.

HEXA Gene: The gene responsible for coding the Hexosaminidase A enzyme; mutations lead to its deficiency.