FaCD Online Syndrome Fact Sheet

Last updated: 13 Apr 2008

Name: Glycogen Storage Disease, type IV

Synonym: Andersen Disease, Brancher deficiency

Mode of Inheritance: AR

Genes

GBE1, mapped to 3p12

Tumor features

hepatic adenomas
hepatocellular cancer (hepatoma)

Tumor features (possible)

neuroblastoma, extra-adrenal

Non-tumor features

liver cirrhosis
myocardial disease
myopathy

Comment

The disorder is characterized by early-onset liver cirrhosis and portal hypertension, cardiomyopathy and myopathy. Death usually occurs between the age of 2 and 4 years. Hepatocellular cancer and liver adenomas have been reported[1,2]. Sarkar et al[3] reported a rare case associated with neuroblastoma, which may very well have been coincidental.
The disorder is caused by a deficiency of amylo (1,4 to 1,6) transglucosidase.

References

[1] Alshak NS, Cocjin J, Podesta L, van de Velde R, Makowka L, Rosenthal P, Geller SA. Hepatocellular adenoma in glycogen storage disease type IV. Arch Pathol Lab Med 1994; 118(1):88-91.
[2] de Moor RA, Schweizer JJ, van Hoek B, Wasser M, Vink R, Maaswinkel-Mooy PD. Hepatocellular carcinoma in glycogen storage disease type IV. Archives of disease in childhood 2000; 82(6):479-80.
[3] Sarkar AK, Sarkar S, Asawa V, Munshi AK. Glycogen storage disease (type-IV) with cirrhosis and metastatic intrathoracic neuroblastoma. Indian J Pediatr 1994; 61(3):293-297.