Von Gierke disease

Synonyms

4

Overview

An inherited metabolic disorder where a deficiency of the enzyme glucose-6-phosphatase prevents glycogen being turned into glucose leading to a buildup of glycogen in the liver and kidneys.

Symptoms

• Low blood sugar
• Puffy cheeks
• Thin chest
• Intolerance of fasting
• Stunted growth

Causes

Almost all glycogen storage diseases (Types I through V and Type VII) are transmitted as autosomal recessive traits. The transmission mode of Type VI is unknown; Type VIII may be an X-linked trait. The most common glycogen storage disease is Type I — von Gierke’s, or hepatorenal glycogen storage disease — which results from a deficiency of the liver enzyme glucose-6-phosphatase. This enzyme converts glucose-6-phosphate into free glucose and is necessary for the release of stored glycogen and glucose into the bloodstream, to relieve hypoglycemia. Infants may die of acidosis before age 2; if they survive past this age, with proper treatment, they may grow normally and live to adulthood, with only minimal hepatomegaly. However, there’s a danger of adenomatous liver nodules, which may be premalignant.

Diagnosis

The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Von Gierke Disease. This medical information about signs and symptoms for Von Gierke Disease has been gathered from various sources, may not be fully accurate, and may not be the full list of Von Gierke Disease signs or Von Gierke Disease symptoms. Furthermore, signs and symptoms of Von Gierke Disease may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Von Gierke Disease symptoms.