Question

Match List-I with List-II.  

\[ \begin{array}{|l|l|} \hline \textbf{List-I (Name of the Disease)} & \textbf{List-II (Name of the Deficient Enzyme)} \\ \hline \text{(A) Pompe disease} & \text{(I) Iduronate sulfatase} \\ \text{(B) Gaucher disease} & \text{(II) Beta hexosaminidase A} \\ \text{(C) Tay-Sachs disease} & \text{(III) Acid beta glucosidase} \\ \text{(D) Hunter syndrome} & \text{(IV) Acid alpha glucosidase} \\ \hline \end{array} \] 
Choose the correct answer from the options given below.

• (A) - (I), (B) - (II), (C) - (III), (D) - (IV)
• (A) - (I), (B) - (II), (C) - (IV), (D) - (III)
• (A) - (IV), (B) - (III), (C) - (II), (D) - (I)
• (A) - (III), (B) - (IV), (C) - (I), (D) - (II)

Hint:

To remember key lysosomal storage disease matches:
- Pompe = Acid maltase Acid \(\mathbf{\alpha}\)-glucosidase (Glycogen accumulation).
- Gaucher = Glucocerebrosidase \(\mathbf{\beta}\)-glucosidase.
- Tay-Sachs = Hexosaminidase A (GM2 ganglioside accumulation).
- Hunter = Iduronate sulfatase.

Answer 1

The Correct Option is C

Step 1: Understanding the Concept:
Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders characterized by the deficiency of specific lysosomal enzymes.
This deficiency leads to the abnormal accumulation of undegraded substrates inside lysosomes, causing cellular dysfunction and tissue damage.

Step 2: Detailed Explanation:
Let us match each disease in List-I with its corresponding deficient enzyme in List-II:
- (A) Pompe disease \(\rightarrow\) (IV) Acid alpha glucosidase:
Pompe disease is a glycogen storage disease (Type II) caused by a deficiency of lysosomal acid \(\alpha\)-glucosidase (acid maltase).
This leads to the accumulation of glycogen in lysosomes, particularly in cardiac and skeletal muscle tissue.
- (B) Gaucher disease \(\rightarrow\) (III) Acid beta glucosidase:
Gaucher disease is a lipid storage disorder caused by a deficiency of acid \(\beta\)-glucosidase (glucocerebrosidase).
This leads to the accumulation of glucocerebroside in macrophages (Gaucher cells).
- (C) Tay-Sachs disease \(\rightarrow\) (II) Beta hexosaminidase A:
Tay-Sachs disease is a sphingolipidosis caused by a deficiency of \(\beta\)-hexosaminidase A.
This results in the accumulation of GM2 gangliosides in neurons, causing severe neurodegeneration.
- (D) Hunter syndrome \(\rightarrow\) (I) Iduronate sulfatase:
Hunter syndrome (Mucopolysaccharidosis II) is an X-linked recessive disorder caused by a deficiency of iduronate-2-sulfatase.
This leads to the systemic accumulation of glycosaminoglycans (heparan and dermatan sulfate).
This matching corresponds to (A) - (IV), (B) - (III), (C) - (II), (D) - (I), which is Option (C).

Step 3: Final Answer:
The correct matching is represented by Option (C).