von Gierke disease
Von Gierke disease is a rare genetic disorder caused by a deficiency of the enzyme glucose-6-phosphatase. This enzyme is essential for converting glycogen into glucose, leading to an accumulation of glycogen in the liver and kidneys. Symptoms often include low blood sugar, growth delays, and an enlarged liver.
The condition is inherited in an autosomal recessive pattern, meaning both parents must carry the gene mutation for a child to be affected. Diagnosis typically involves blood tests and genetic testing. Treatment focuses on managing symptoms, often through dietary changes and regular monitoring of blood sugar levels.