Deficiency of enzyme hexosaminidase, α subunit causes –
## Core Concept
The question tests knowledge on lysosomal storage diseases, specifically those caused by deficiencies in hexosaminidase enzymes. Hexosaminidases are lysosomal enzymes crucial for the breakdown of glycosaminoglycans. There are two main types: hexosaminidase A (Hex-A), composed of α and β subunits, and hexosaminidase B (Hex-B), composed of β subunits only.
## Why the Correct Answer is Right
Deficiency of the α subunit of hexosaminidase leads to Tay-Sachs disease, a genetic disorder caused by the inability to break down GM2 ganglioside, a type of lipid that accumulates in neurons. This accumulation results in neurodegeneration. Tay-Sachs disease is characterized by severe neurological deterioration, including seizures, loss of motor skills, and death usually by early childhood. The α subunit deficiency specifically impairs the function of hexosaminidase A.
## Why Each Wrong Option is Incorrect
- **Option A:** This option is incorrect because a deficiency in the β subunit affects both hexosaminidase A and B, leading to Sandhoff disease, which has a similar but more severe presentation than Tay-Sachs, including visceral involvement.
- **Option B:** This option is incorrect as it does not directly relate to a commonly recognized condition associated with hexosaminidase deficiency.
- **Option C:** This option might seem plausible but is not directly linked to the specific deficiency of the α subunit of hexosaminidase.
## Clinical Pearl / High-Yield Fact
A key point to remember is that Tay-Sachs disease is more common in individuals of Ashkenazi Jewish descent. Screening for carriers in high-risk populations is a preventive measure. The disease is an example of a lysosomal storage disorder due to enzyme deficiency.
## Correct Answer Line
**Correct Answer: B. Tay-Sachs disease**