Cerebral creatine deficiency
id:
cerebral-creatine-deficiency-182-18004813
title:
Cerebral creatine deficiency
text:
Cerebral creatine deficiencies are a small group of inherited disorders that result from defects in creatine biosynthesis and utilization. Commonly affected tissues include the brain and muscles. There are three distinct CCDs. The most common is creatine transporter defect (CTD), an X-linked disorder caused by pathogenic variants in SLC6A8. The main symptoms of CTD are intellectual disability and developmental delay, and these are caused by a lack of creatine in the brain, due to the defective t
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Cerebral_creatine_deficiency
date created:
2007-08-15T02:04:45Z
date modified:
2024-09-06T15:19:23Z
main entity:
{"identifier":"Q16908143","url":"https://www.wikidata.org/entity/Q16908143"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/c/c4/Creatine_Deficiency_Disorders.png","width":2651,"height":2058}
fields total:
13
integrity:
16