Adult polyglucosan body disease
id:
adult-polyglucosan-body-disease-167-12151978
title:
Adult polyglucosan body disease
text:
Adult Polyglucosan Body Disease (APBD) is a rare monogenic glycogen storage disorder 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, lack of sensation in the legs and people eventually develop dementia. A person inherits loss-of-function mutations in the GBE1 gene from each parent, and the lack of glycogen branching enzyme leads to buildup of unbranched glycogen in cells, which harms
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Adult_polyglucosan_body_disease
date created:
2015-08-21T15:43:47Z
date modified:
2024-08-30T16:46:00Z
main entity:
{"identifier":"Q379038","url":"https://www.wikidata.org/entity/Q379038"}
image:
fields total:
13
integrity:
15