Andersen's disease

Classification according to ICD-10
E74.0	Glycogen storage disease (glycogenosis) with cirrhosis, liver
ICD-10 online (WHO version 2019)

The Glycogen storage disease type IV , or glycogen storage disease type IV , Amylopektinose (synonyms: Andersen's syndrome, Andersen Glycogenosis, Andersen's syndrome, also glycogen branching enzyme deficiency (GBED)), is an autosomal - recessive inherited metabolic disease and belongs to the group of the glycogen storage diseases (glycogen storage diseases ). The disease manifests itself within the first months of life and is characterized by a disruption of glycogen synthesis . At the metabolic level, there is a defect in the branching enzyme , the so-called amylo-1,4-1,6-transglucosidase, which is responsible for the lateral branching of the glycogen molecules. The primary consequence is rapidly progressing cirrhosis of the liver due to the accumulation of abnormal glycogen in the form of amylose- like structures in the hepatocytes . The responsible gene (GBE1) could be located on chromosome (3p12) and codes for the 1,4-α-glucan-branching enzyme .

Klink and course

In the foreground of the clinical presentation is hepatomegaly with rapid progression to liver cirrhosis with portal hypertension and subsequent splenomegaly and esophageal varices . In some cases there may be muscular involvement with weakness, atrophy, and decreased tone. In contrast to glycogenosis type I , glycogenosis type 0 and glycogenosis type III, hypoglycaemia is not found.

Diagnosis

The diagnosis is made on the basis of the clinical picture, laboratory, a liver biopsy with histology and a molecular genetic examination. Histologically, there are intracellular accumulations of PAS-positive , amylopectin-like structures. Detection of the enzyme deficiency in hepatocytes and possibly also in fibroblasts and leukocytes ensures the diagnosis. Mutations in the glycogen branching enzyme gene (GBE1, gene locus 3p12, 3kb) can be detected molecularly.

therapy

The therapy is predominantly symptomatic or directed towards the treatment of complications (e.g. pressure reduction in the portal vein circulation, substitution of coagulation factors and albumin). The significance of the causal therapy in the form of a liver transplant is controversial, as the defective glycogen can continue to be deposited in other organs with corresponding complications.

Individual evidence

1. ^ Hoffmann-La Roche AG, Urban & Schwarzenberg (ed.): Roche Lexicon Medicine. 4th edition. Urban & Schwarzenberg, 1998, ISBN 3-541-17114-6 .
2. ↑ G. Löffler, P. Petrides (Ed.): Biochemistry and Pathobiochemistry. 5th edition. Springer Verlag, 1997, ISBN 3-540-59006-4 .
3. ↑ VJ Thon, M. Khalil, JF Cannon: Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast. In: J Biol Chem . 1993 Apr 5; 268 (10), pp. 7509-7513. PMID 8463281
4. ↑ MJ Lentze, J. Schaub, F.-J. Schulte, J. Spranger (Ed.): Pediatrics. 2nd Edition. Springer Verlag, 2007, ISBN 978-3-540-66811-4 .
5. ↑ AWMF guidelines for paediatrics and adolescent medicine: Glycogen storage diseases of the liver No. 027/015. (Full text) ( Memento from May 12, 2007 in the Internet Archive )
6. ↑ W. Böcker, H. Denk, Ph. U. Heitz (Ed.): Pathology. 2nd Edition. Urban & Fischer Verlag, 2001, ISBN 3-437-42380-0 .
7. ↑ AWMF guidelines for paediatrics and adolescent medicine: Glycogen storage diseases of the liver No. 027/015 ( full text ( Memento from May 12, 2007 in the Internet Archive ))

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