Assays / Genetic Enzymes / Glycogen Storage Disease Type IV (ANDERSEN DISEASE)

Glycogen storage disease type IV is a rare but severe disorder in which affected infants fail to thrive shortly after birth with death usually occurring before the age of 2 years, although milder variants are known. There is progressive hepatosplenomegaly and liver failure accompanied by cirrhosis. It is due to deficiency of the glycogen brancher enzyme which introduces branch points into the glycogen molecule. This results in accumulation in the liver of glycogen with an abnormal structure, although the total content in the liver is not usually increased. Inheritance is autosomal recessive. In a variant form of the disease the enzyme deficiency and pathology is restricted to muscle.

ENZYME TESTS: The disease is due to deficiency of the glycogen brancher enzyme

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