Von Gierke Disease (GSD I)
Description
Von Gierke Disease (GSD I), also known as glycogen storage disease type 1, is a rare genetic disorder that primarily affects the liver and kidneys. This condition disrupts the body‘s ability to break down glycogen, the stored form of glucose, leading to a buildup of glycogen in the liver and kidneys. This buildup causes various symptoms, including hypoglycemia (low blood sugar), hepatomegaly (enlarged liver), and kidney problems. In this blog post, we‘ll delve into the intricacies of GSD I, exploring its causes, symptoms, diagnosis, management, and strategies for thriving with this condition.
Genes Involved
Von Gierke Disease (GSD I) is caused by mutations in the G6PC gene. This gene provides instructions for creating the enzyme glucose-6-phosphatase, which plays a critical role in the breakdown of glycogen. When this enzyme is deficient or absent, glycogen cannot be properly converted to glucose, leading to the accumulation of glycogen in the liver and kidneys.
Recognizing the Signs and Symptoms
Recognizing the signs and symptoms of GSD I is crucial for early diagnosis and management. Some of the most common symptoms include:
- Hypoglycemia (Low Blood Sugar): GSD I patients often experience severe hypoglycemia, especially between meals and overnight. Symptoms can include sweating, shaking, dizziness, confusion, and even seizures.
- Hepatomegaly (Enlarged Liver): The buildup of glycogen in the liver causes it to enlarge, which can be detected through physical examination or imaging tests.
- Kidney Problems: GSD I can also affect kidney function, leading to proteinuria (protein in the urine), hyperuricemia (high uric acid levels), and kidney stones.
- Delayed Growth: Children with GSD I may experience delayed growth due to the body‘s inability to utilize glucose effectively.
- Other Symptoms: Other symptoms may include frequent infections, hyperlipidemia (high cholesterol levels), and lactic acidosis (build-up of lactic acid in the blood).
Causes
GSD I is an inherited genetic disorder, meaning it is passed down from parents to their children. It occurs when an individual inherits two copies of the mutated G6PC gene, one from each parent. Individuals who inherit one copy of the mutated gene are considered carriers and may not show any symptoms of the disease.
Inheritance/recurrence risk
GSD I is inherited in an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene for their child to inherit the condition. If both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit GSD I. There is a 50% chance that their child will be a carrier, and a 25% chance that their child will not inherit the mutated gene.
