NGLY1 deficiency
id:
ngly1-deficiency-316-4780386
title:
NGLY1 deficiency
text:
NGLY1 deficiency is a very rare genetic disorder caused by biallelic pathogenic variants in NGLY1. It is an autosomal recessive disorder. Errors in deglycosylation are responsible for the symptoms of this condition. Clinically, most affected individuals display developmental delay, lack of tears, elevated liver transaminases and a movement disorder. NGLY1 deficiency is difficult to diagnose, and most individuals have been identified by exome sequencing. NGLY1 deficiency causes a dysfunction in t
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/NGLY1_deficiency
date created:
date modified:
2024-01-15T00:42:05Z
main entity:
{"identifier":"Q28024539","url":"https://www.wikidata.org/entity/Q28024539"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/1/1b/Protein_NGLY1_PDB_2ccq.png","width":856,"height":690}
fields total:
13
integrity:
15