Gaucher’s disease is inherited as?
**Core Concept**
Gaucher's disease is a genetic disorder caused by a deficiency of the enzyme glucocerebrosidase, leading to the accumulation of glucocerebroside in various organs. It is a lysosomal storage disease, characterized by the breakdown of glucocerebroside into glucose and ceramide.
**Why the Correct Answer is Right**
Gaucher's disease is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to express the disease. This is because the enzyme glucocerebrosidase is located on chromosome 1, which is not linked to the sex chromosomes. Therefore, males and females are equally likely to be affected, and the disease is not sex-linked.
**Why Each Wrong Option is Incorrect**
**Option B:** Autosomal dominant inheritance would require only one copy of the mutated gene to express the disease, which is not the case for Gaucher's disease. Autosomal dominant diseases often have a higher prevalence and earlier onset.
**Option C:** X-linked recessive inheritance would mean that the gene responsible for the disease is located on the X chromosome, and the disease would predominantly affect males, who have only one X chromosome. However, Gaucher's disease is not sex-linked.
**Option D:** X-linked dominant inheritance would also imply that the gene is located on the X chromosome and that females are more likely to be affected than males. However, Gaucher's disease does not follow this inheritance pattern.
**Clinical Pearl / High-Yield Fact**
It's essential to remember that Gaucher's disease is a lysosomal storage disease, and its diagnosis often involves enzyme assays or genetic testing to confirm the deficiency of glucocerebrosidase.
**β Correct Answer: A. Autosomal recessive. Gaucher's disease is inherited as an autosomal recessive trait.**