Tarui disease – genetic testing for glycogen storage disorder type VII (GSD7)
Tarui disease, more commonly known as glycogen storage disease type VII, or GSD7, is an inherited disease caused by a deficiency in an enzyme responsible for breaking down glycogen in our body. Glycogen storage diseases Glycogen is a form of energy storage in the body. The main energy supply to the cells is glucose […]
Hers disease – genetic testing for glycogen storage disease type VI
Hers disease, also known as glycogen storage disease type VI, is disease caused by a gene mutation that impairs glycogen storage metabolism. This disease is named after Henri-Géry Hers, one of the researchers that interpreted lysosomal storage diseases. Glycogen is a molecule built of glucose base-units, that helps keep a stable level of glucose in […]
Andersen disease – genetic testing for glycogen storage disease type IV
Andersen disease, also known as glycogen storage disease type IV (also GSD type IV), is a hereditary disorder that belongs to a group of disorders caused by a deficiency in the body’s glycogen stores. Cause In GSD type IV, the mutated gene is linked to building glycogen structures in the cells. Glycogen is not […]
Cori Disease – genetic testing for GSD3
Cori disease, also known as glycogen storage disorder type III, is an inherited disorder caused by a defect in the glycogen synthesis mechanism. It belongs to a group of diseases known as glycogen storage diseases. What are glycogen storage diseases? Our cells require glucose to provide energy for basic life activities. Since we do […]
Pompe disease (GDS2) – genetic testing for glycogen storage disease type II
Pompe disease, also known as acid maltase deficiency or glycogenosis type II, is an inherited neuro-muscular disease. This disease disrupts the breakdown of glycogen in certain cells due to a mutated gene coding the enzyme acid alpha-glucosidase (also known as acid maltase). This is the first type of glycogen storage disease described in medical literature, […]
Genetic testing for GSD1 (Glycogen storage disease type I) – Von Gierke disease
Glycogen storage disorder type I (also known as GDS1 and Von Gierke disease) is a hereditary disorder that disrupts the ability to break down and use glycogen, a stored form of glucose. Glycogen storage disorders Glycogen is a glucose polymer, which means it comprises many units of chemically attached glucose. Glycogen is a storage […]
