# adult polyglucosan body disease

> Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia

**Wikidata**: [Q379038](https://www.wikidata.org/wiki/Q379038)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Adult_polyglucosan_body_disease)  
**Source**: https://4ort.xyz/entity/adult-polyglucosan-body-disease


## References

1. Monarch Disease Ontology release 2018-06-29
2. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000114480/MONDO_0009897)