What is the enzyme deficiency that results in Hurler syndrome?

What is the enzyme deficiency that results in Hurler syndrome?

• A. Beta-galactosidase
• B. Alpha-iduronidase
• C. Glucose-6-phosphatase
• D. Neuraminidase

Answer: (B)

Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), is a genetic disorder caused by a deficiency of the enzyme alpha-iduronidase. This enzyme plays a crucial role in the breakdown of glycosaminoglycans (GAGs), specifically heparan sulfate and dermatan sulfate. When alpha-iduronidase is deficient or absent, these GAGs accumulate in various tissues, leading to the symptoms associated with Hurler syndrome, such as developmental delays, coarse facial features, skeletal deformities, and organ enlargement. The accumulation of these substances occurs because they are not properly degraded. As a result, the cellular and tissue functions become compromised, ultimately leading to a range of clinical manifestations. This condition is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene from their parents to exhibit the symptoms of the disease. In contrast, the other enzymes mentioned in the choices are associated with different lysosomal storage disorders. For example, beta-galactosidase deficiency leads to GM1 gangliosidosis, glucose-6-phosphatase deficiency is related to glycogen storage diseases like Von Gierke disease, and neuraminidase deficiency is

Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), is a genetic disorder caused by a deficiency of the enzyme alpha-iduronidase. This enzyme plays a crucial role in the breakdown of glycosaminoglycans (GAGs), specifically heparan sulfate and dermatan sulfate. When alpha-iduronidase is deficient or absent, these GAGs accumulate in various tissues, leading to the symptoms associated with Hurler syndrome, such as developmental delays, coarse facial features, skeletal deformities, and organ enlargement.

The accumulation of these substances occurs because they are not properly degraded. As a result, the cellular and tissue functions become compromised, ultimately leading to a range of clinical manifestations. This condition is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene from their parents to exhibit the symptoms of the disease.

In contrast, the other enzymes mentioned in the choices are associated with different lysosomal storage disorders. For example, beta-galactosidase deficiency leads to GM1 gangliosidosis, glucose-6-phosphatase deficiency is related to glycogen storage diseases like Von Gierke disease, and neuraminidase deficiency is