An enlarged liver. 7 types of Glycogen Storage Diseases. Lagging growth. Fructosuria: Fructose may appear in the urine under the follow­ing circumstances: a. It is an autosomal recessive disorder in which there is a deficiency of glycogen phosphorylase.McArdle reported the first patient in 1951. It is due to a lack of the enzyme known as glucose-6-phosphatase. Glycogen storage disease type V. GSD type V, also known as McArdle disease, affects the skeletal muscles. Type 0 (Lewis' disease). There are four symptoms that might cause the doctor to suspect a type of GSD that affects the liver. These include: A low blood glucose level. von Gierke described the first patient with GSD type I in 1929 under the name hepatonephromegalia glycogenica. There are at least 10 different types of GSDs. The main types of glycogen storage diseases in children are categorized by number and name. About one quarter of people who have glycogen storage disorder have type I. It accounts for approximately 75% of affected individuals and is also known as X-linked liver glycogenesis … The accumulated glycogen is structurally abnormal and impairs the function of certain organs and … Glycogen storage disease type I, also called Von-Gierke’s disease, is a genetic disorder caused by a mutation in the glucose 6 phosphatase gene on chromosome 17. If this doesn’t work for you, try this – Very Poor Carbohydrate Affects Muscle and Hepatic Target. They include: Type I (Von Gierke disease) – this is the most common type of glycogen storage disease, and accounts for 90% of all glycogen storage disease cases; Type II (Pompe's disease, acid maltase deficiency) This type of GSDI is termed glycogen storage disease type Ia. The most common forms of GSD are types I (one), III (three) and IV (four). Mutations in the G6PC gene result in a deficiency in the glucose-6-phosphatase (G6Pase) enzyme and account for approximately 80% of GSDI. b. Glycogen Storage Disease Type IXa GSD-IXa is the most common subtype of GSD IX, and is caused by the deficiency of phosphorylase kinase in the liver. Mnemonic:VP CAM HT. Type VIII and type X are now classified with type VI. Abnormal blood tests. Types of Glycogen Storage Disease. Glycogen storage disease type I Glycogen storage disease (GSD) type I is also known as von Gierke disease or hepatorenal glycogenosis. How are types of glycogen storage diseases (GSDs) detected? About one in 20,000 people have a type of GSD. The end result is that glycogen can’t be broken down into glucose in liver cells, so glucose metabolism goes awry, resulting in symptoms like low blood sugar, weakness and poor growth. Type I glycogen storage disease is associated with abnormalities in two genes. Glycogen Storage Diseases: Type # 9. This is a pretty lame mnemonic for the order of the disease but this is what I’ve used for years now. Types of Glycogen Storage Disease. 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