Late Recognition of Andersen's Disease in Advanced Heart Failure

Glucogen storage diseases such as Andersen's disease are inherited disorders of carbohydrate metabolism. Cardiac involvement in Andersen's disease is extremely unusual and difficult to diagnose, especially in elderly individuals with atypical presentations. The following is a case of a 61-year-old man with a family history of muscle weakness who presented with congestive heart failure and was found to have Andersen disease cardiomyopathy. The diagnosis was made in view of the normal negative workup for cardiomyopathy, massive glucose tetrasaccharide excretion, and normal alpha-glucosidase activity. The patient rapidly deteriorated and passed away. This case highlights the need to consider storage diseases in adults with nonischemic dilated cardiomyopathy of uncertain etiology in the presence of liver or muscle involvement

A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene / 대한소아소화기영양학회지

Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme leading to progressive liver disease. GSD IV is associated with mutations in GBE1, which encodes the glycogen branching enzyme. We report a case of GSD IV with rare homozygous mutations in the GBE1 gene (c.791G>A (p.Gly264Glu), which was successfully treated by liver transplantation.