Glycogen storage disease (GSD) is the name for a group of disorders that interfere with the body’s ability to make glycogen or convert glycogen into glucose. Depending on the type of GSD a child has, glycogen may build up in the liver, in the muscles, or both. GSD can also affect blood cells, the heart, kidneys, and other organs.

2023年8月8日 · Glycogen storage disease type I (GSD I), also known as Von Gierke disease, is an inherited disorder caused by deficiencies of specific enzymes in the glycogen metabolism pathway. It was first described by Von Gierke in 1929 who reported excessive hepatic and renal glycogen in the autopsy reports of 2 children.

Glycogen storage diseases (GSDs) are a group of inherited genetic disorders that cause glycogen to be improperly stored in the body. Children with glycogen storage diseases have a buildup of abnormal amounts or types of glycogen in their tissues. Glycogen is the storage form of …

What is glycogen storage disease (GSD)? Glycogen storage disease (GSD) is a rare metabolic disorder where the body is not able to properly store or break down glycogen, a form of sugar or glucose. GSD affects the liver, muscles and other areas of …

Glycogen storage diseases are a group of rare inherited conditions that can cause frequent low blood sugar, muscle weakness and liver damage. There are several different types based on which enzyme is missing, and each one affects you differently. Most types are manageable with treatment. What is glycogen storage disease?

Glycogen storage disease (GSD) is a rare genetic condition that prevents a child’s body from making, storing or using glycogen as it should. Glycogen is one of the body’s main forms of energy. It is stored mostly in the liver and muscles, where enzymes break it down into glucose (sugar) when the body needs more energy.

What causes glycogen storage disease in a child? Glycogen storage disease is passed down from parents to children (hereditary). It happens because both parents have an abnormal gene (gene mutation) that affects a specific way that glycogen is stored or used. Most GSDs occur because both parents pass on the same abnormal gene to their children.

2006年4月19日 · Glycogen storage disease type I (GSD I) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to …

2010年3月9日 · GSD IIIa (~85% of all GSD III) is characterized by liver and muscle involvement, and GSD IIIb (~15% of all GSD III) is characterized by liver involvement only, typically present in childhood with hepatomegaly and ketotic hypoglycemia with markedly elevated liver transaminases and hypertriglyceridemia.

Glycogen Storage Disease (GSD) is a group of rare genetic disorders caused by enzyme deficiencies. GSD is generally divided into liver and muscle types. The liver types of glycogen storage diseases that cause Hypoglycemia (low blood glucose/sugar) are …