PMM2 deficiency
id:
pmm2-deficiency-248-7238810
title:
PMM2 deficiency
text:
PMM2 deficiency or PMM2-CDG, previously CDG-Ia, is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disease that is the most common type of congenital disorder of glycosylation or CDG. PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. Only about 800 children and adults have been reported worldwide.
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/PMM2_deficiency
date created:
date modified:
2023-12-03T08:06:55Z
main entity:
{"identifier":"Q3508654","url":"https://www.wikidata.org/entity/Q3508654"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/9/93/Protein_PMM2_PDB_2amy.png","width":983,"height":648}
fields total:
13
integrity:
15