ⓘ Adult polyglucosan body disease

                                     

ⓘ Adult polyglucosan body disease

Adult polyglucosan body disease is an orphan disease and a glycogen storage disorder that is caused by an inborn error of metabolism. Symptoms can emerge any time after the age of 30, early symptoms include trouble controlling urination, trouble walking, and lack of sensation in the legs. People eventually develop dementia.

A person inherits a loss of function mutation in the GBE1 gene from each parent, and the absence of glycogen branching enzyme, the protein encoded by the GNE1 leads to accumulation of glycogen in the cells and unbranched, which harms neurons more than other types of cells.

Most people first go to the doctor because of problems with urination. The condition is diagnosed by symptom collection, neurological examination, laboratory tests, including genetic testing, and medical imaging. As of 2015 there is no treatment or cure, but symptoms can be managed. People with a diagnosis of APBD can live a long time after diagnosis, but are likely to die earlier than people without the condition.

                                     
  • Andersen. Mutations in GBE1 can also cause a milder disease in adults called adult polyglucosan body disease In horses: it has been reported in American Quarter
  • ABPD can stand for: Associação Brasileira dos Produtores de Discos Automated Business Process Discovery Adult Polyglucosan Body Disease
  • with glycogen storage disease type IV also known as Andersen s disease in newborns and with adult polyglucosan body disease Approximately 40 mutations
  • Lafora bodies are aggregates of polyglucosans or abnormally shaped glycogen molecules. Glycogen in Lafora disease patients has abnormal chain lengths
  • IPOD Orthopoxvirus inclusion bodies Inclusion body myositis Hereditary inclusion body myopathy Adult polyglucosan body disease Cruts M, Gijselinck I, van