Which of the following diseases is X-linked recessive?

Which of the following diseases is X-linked recessive?

• A. Gaucher's Disease
• B. Fabry's Disease
• C. Krabbe's Disease
• D. Tay-Sachs Disease

Answer: (B)

Fabry's Disease is indeed an X-linked recessive disorder, which stems from a deficiency of the enzyme alpha-galactosidase A. This enzyme is crucial for the breakdown of certain lipids, and its deficiency leads to the accumulation of globotriaosylceramide in various tissues, resulting in a variety of clinical symptoms. The inheritance pattern of X-linked recessive disorders is significant because it means that males, who have only one X chromosome, are more likely to express the disease if they inherit the mutated gene. In contrast, females have two X chromosomes and would require mutation in both copies to express the disease, making them often carriers rather than affected individuals. In contrast, other diseases listed, such as Gaucher's Disease, Krabbe's Disease, and Tay-Sachs Disease are autosomal recessive disorders, meaning they are associated with mutations on non-sex chromosomes and affect both genders equally. Therefore, recognizing the X-linked recessive pattern in Fabry's Disease provides important insights into its genetic transmission and implications for family planning and genetic counseling.

Fabry's Disease is indeed an X-linked recessive disorder, which stems from a deficiency of the enzyme alpha-galactosidase A. This enzyme is crucial for the breakdown of certain lipids, and its deficiency leads to the accumulation of globotriaosylceramide in various tissues, resulting in a variety of clinical symptoms.

The inheritance pattern of X-linked recessive disorders is significant because it means that males, who have only one X chromosome, are more likely to express the disease if they inherit the mutated gene. In contrast, females have two X chromosomes and would require mutation in both copies to express the disease, making them often carriers rather than affected individuals.

In contrast, other diseases listed, such as Gaucher's Disease, Krabbe's Disease, and Tay-Sachs Disease are autosomal recessive disorders, meaning they are associated with mutations on non-sex chromosomes and affect both genders equally. Therefore, recognizing the X-linked recessive pattern in Fabry's Disease provides important insights into its genetic transmission and implications for family planning and genetic counseling.