Glycogen storage disease type IV

The disease Andersen, or glycogen storage disease type IV, Amylopektinose (synonyms: Andersen 's syndrome, Andersen glycogenosis, Andersen syndrome, also Glycogen Branching Enzyme Deficiency ( GBED ) ), is an autosomal recessive metabolic disorder and belongs to the group of glycogen ( glycogen storage diseases ). The disease manifests itself within the first months of life and is characterized by a disorder of glycogen synthesis. On metabolic level, shows a defect in the branching enzyme, the so-called amyloid -1 ,4 -1 ,6- transglucosidase, which is responsible for the Seitverzweigung the Glykogenmoleküle. Result is primarily a rapidly progressive liver cirrhosis caused by accumulation of abnormal glycogen in the form of amylose - like structures in the hepatocytes. The responsible gene ( GBE1 ) was on chromosome ( 3p12 ) are localized and encodes the 1,4- α -glucan branching enzyme.

Klink and History

In the foreground of the clinical features, the hepatomegaly associated with rapid progression to liver cirrhosis with portal hypertension and esophageal varices and splenomegaly consecutive. In some cases, it can lead to muscular involvement with weakness, atrophy and reduced- tone. Hypoglycaemia did not find, in contrast to type I glycogen storage disease, glycogen storage disease type 0 and type III glycogen storage disease.

Diagnostics

The diagnosis is made based on the clinical picture, laboratory, a liver biopsy with histology and molecular genetic investigation. Histologically, intracellular accumulations of PAS -positive, amylopectin -like structures. The detection of the enzyme deficiency in hepatocytes and possibly also in fibroblasts and leukocytes confirms the diagnosis. Molecular genetic table can be mutations in the glycogen branching enzyme gene ( GBE1, locus 3p12, 3kb ) demonstrate.

Therapy

Symptomatic therapy is mainly directed to the treatment or complications (for example, pressure reduction in the portal circulation, replacement of coagulation factors, albumin). The causal therapy in the form of a liver transplantation is controversial in its value, as it can continue to come to deposits of the defective glycogen in other organs with corresponding complications.