Similar Diseases
- Amylopectinosis
- Amylo 1,6 glucosidase deficiency
- Glycogen storage disease IX
- Glycogenosis type 9A
- Glycogenosis due to liver glycogen phosphorylase deficiency
- Glycogenosis due to muscle glycogen phosphorylase deficiency
- Glycogenin Deficiency
- Glycogenosis due to liver and muscle phosphorylase kinase deficiency
- Acid maltase deficiency
- Glycogenosis due to muscle phosphorylase kinase deficiency
Made by DATEXIS (Data Science and Text-based Information Systems) at Beuth University of Applied Sciences Berlin
Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
Results for Query ‹ Amylopectinosis symptoms ›
Glycogen storage disease type IV – Abstract
Glycogen storage disease type IV, also known as Anderson’s Disease, is a form of glycogen storage disease, which is caused by an inborn error of metabolism. It is the result of a mutation in the GBE1 gene, which causes a defect in the glycogen branching enzyme. Therefore, glycogen is not made properly and abnormal glycogen molecules accumulate in cells; most severely in cardiac and muscle cells. The severity of this disease varies on the amount of enzyme produced. Glycogen Storage Disease Type IV is autosomal recessive, which means each parent has a mutant copy of the gene but show no symptoms of the disease. It affects 1 in 800,000 individuals worldwide, with 3% of all Glycogen Storage Diseases being type IV.
Glycogen storage disease type IV – Names
It is also known as:
- Glycogenosis type IV
- Glycogen branching enzyme deficiency
- Polyglucosan body disease
- Amylopectinosis
The eponym "Andersen's disease" is sometimes used, for Dorothy Hansine Andersen.
Mutations in GBE1 can also cause a milder disease in adults called adult polyglucosan body disease.