**Question:** All of the following are true about von Gierke's disease except

A. It is also known as glycogen storage disease type II.
B. It is a liver disease.
C. It is caused by a deficiency of glucose-6-phosphatase enzyme.
D. It is a neuromuscular disorder.

**Correct Answer:** D. It is a neuromuscular disorder.

**Core Concept:**
von Gierke's disease, also known as glycogen storage disease type II, is a rare inherited disorder affecting the body's ability to break down glycogen, a complex carbohydrate stored in the liver and muscles. The disease is caused by a deficiency in the glucose-6-phosphatase enzyme, which is essential for the breakdown of glycogen into usable glucose. As a result, glycogen accumulates in the liver and muscles, leading to characteristic clinical features.

**Why the Correct Answer is Right:**
von Gierke's disease primarily affects the liver and muscles, causing their dysfunction. The primary symptoms include:
1. Hepatic (liver) involvement: Liver enlargement, increased liver enzymes, and elevated blood ammonia levels.
2. Neurological involvement: Hypotonia (weakness), developmental delay, and cognitive impairment.

**Why Each Wrong Option is Incorrect:**
A. von Gierke's disease is indeed known as glycogen storage disease type II, but the incorrect answer choice is D because:
- Neuromuscular involvement does occur in the disease, but it is a less prominent feature compared to hepatic and neurological manifestations.
B. While the disease does affect the liver, the correct answer is not B as it is not the primary cause of the disease.
C. The enzyme glucose-6-phosphatase deficiency is the primary cause of von Gierke's disease, which leads to glycogen accumulation in the liver and muscles.
D. Neuromuscular involvement is the least prominent feature of von Gierke's disease, making option D incorrect.

**Clinical Pearls:**
1. Glycogen storage diseases are a group of inherited disorders caused by deficiencies in enzymes involved in glycogen synthesis or breakdown.
2. Diagnosis of von Gierke's disease is typically done through liver biopsy, which demonstrates accumulation of glycogen in hepatocytes (liver cells).
3. Treatment focuses on managing symptoms and complications, including liver transplantation for severe liver disease and enzyme replacement therapy for neurological manifestations.