Sepiapterin reductase deficiency
id:
sepiapterin-reductase-deficiency-296-16186853
title:
Sepiapterin reductase deficiency
text:
Sepiapterin reductase deficiency is an inherited pediatric disorder characterized by movement problems, and most commonly displayed as a pattern of involuntary sustained muscle contractions known as dystonia. Symptoms are usually present within the first year of age, but diagnosis is delayed due to physicians lack of awareness and the specialized diagnostic procedures. Individuals with this disorder also have delayed motor skills development including sitting, crawling, and need assistance when
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Sepiapterin_reductase_deficiency
date created:
date modified:
2022-06-14T09:52:21Z
main entity:
{"identifier":"Q17156923","url":"https://www.wikidata.org/entity/Q17156923"}
image:
fields total:
13
integrity:
14