Which of the following is an autosomal dominant metabolic disorder
**Core Concept:** Autosomal dominant inheritance is a pattern of genetic disorders where the affected gene is located on an autosome and the trait is passed down from one parent to the offspring. In these disorders, there is a 50% chance of the affected gene being passed to each offspring.
**Why the Correct Answer is Right:** Option C, **Gaucher Disease**, is an autosomal dominant genetic disorder caused by a deficiency of acid beta-glucosidase enzyme. This leads to the accumulation of glucosylceramides in macrophages, primarily affecting the spleen, liver, and bone marrow. The disease manifests with a range of symptoms, including anemia, thrombocytopenia, and bone pain or fractures.
**Why Each Wrong Option is Incorrect:** Option A (Familial Hypercholesterolemia) is an autosomal dominant disorder caused by mutations in the LDLR gene (low-density lipoprotein receptor) that results in increased low-density lipoprotein (LDL) cholesterol levels.
Option B (Hepatitis B) is a viral infection caused by the hepatitis B virus, transmitted through blood or body fluids, affecting the liver. It is not an autosomal dominant disorder.
Option D (Hypothyroidism) is a hormonal disorder caused by an underactive thyroid gland and is typically inherited in an autosomal recessive manner.
**Clinical Pearl:** Autosomal dominant disorders are often inherited from a parent with the trait, which may not necessarily manifest as the disease itself. This is because the disease may be caused by a combination of multiple genes or modifier genes that are not inherited from the affected parent.
**Correct Answer:** C - Gaucher Disease is an autosomal dominant disorder caused by a deficiency in the enzyme beta-glucocerebrosidase, resulting in the accumulation of glucosylceramide in macrophages, leading to the clinical manifestations of the disease.