What is the result of beta-galactosidase deficiency?

• A. Mucopolysaccharidosis IV type B
• B. Sialidosis
• C. Von Gierke disease
• D. Hurler syndrome

Answer: (A)

Beta-galactosidase deficiency is primarily associated with GM1 gangliosidosis, a lysosomal storage disorder. The choice that links to this condition is mucopolysaccharidosis IV type B, which is also known as Morquio syndrome. This disorder involves a disruption in the breakdown of glycosaminoglycans due to deficiencies in specific enzymes, leading to an accumulation of substances in tissues and various symptoms.

In contrast, Hurler syndrome, von Gierke disease, and sialidosis are associated with different enzyme deficiencies. Hurler syndrome is caused by a deficiency in iduronidase, von Gierke disease involves a deficiency in glucose-6-phosphatase, and sialidosis is due to a deficiency in sialidase. Each of these conditions has distinct clinical features and is part of different metabolic pathways. Understanding the specific deficiency helps clarify the associated disorders and their effects on the body.