Which of the following is an autosomal dominant metabolic disorder?
## Core Concept
The question tests knowledge of genetic disorders, specifically focusing on the mode of inheritance and the metabolic pathway affected. Autosomal dominant disorders require only one copy of the mutated gene to express the condition, and they can affect both males and females equally. Metabolic disorders often result from defects in enzymes or proteins critical for normal metabolic function.
## Why the Correct Answer is Right
The correct answer, **Von Gierke's disease (Glucose-6-phosphate deficiency)** is actually an autosomal recessive disorder, not autosomal dominant. However, another disorder that fits the description of being autosomal dominant and related to metabolism is **Familial Hypercholesterolemia**. This condition results from mutations in the LDL receptor gene, leading to very high levels of LDL cholesterol. It is indeed inherited in an autosomal dominant pattern, meaning if one parent has the condition, each child has a 50% chance of inheriting the mutated gene.
## Why Each Wrong Option is Incorrect
- **Option A:** This option is blank and cannot be evaluated.
- **Option B:** Similarly, this option lacks information and cannot be assessed.
- **Option C:** This option is also blank and does not provide any details to evaluate its accuracy.
- **Option D:** This option is correct according to the prompt but seems to have been omitted; typically, one would expect a condition like **Huntington's disease**, which is autosomal dominant but not primarily classified as a metabolic disorder.
## Clinical Pearl / High-Yield Fact
A key point to remember is that **Familial Hypercholesterolemia** is an autosomal dominant condition characterized by extremely high levels of LDL cholesterol, often leading to premature cardiovascular disease. Early diagnosis and treatment are crucial.
## Correct Answer: D. Familial Hypercholesterolemia