Diagnosis and Treatment of X-Linked Creatine Transporter Deficiency: Case Report and Literature Review

Diagnosis and Treatment of X-Linked Creatine Transporter Deficiency: Case Report and Literature Review

(1) Background: X-linked creatine transporter deficiency (CTD) (OMIM 300036) is a rare group of inherited metabolic disorders characterized by global developmental delay/intellectual disability (GDD/ID), seizures, autistic behavior, and movement disorders. Pathogenic variants in the <i>SLC6A8&...

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Bibliographic Details
Main Authors: Jiaqing Li, Sanqing Xu
Format: Article
Language:English
Published: MDPI AG 2023-09-01
Series:Brain Sciences
Subjects:
creatine transporter deficiency
developmental delay
MR spectroscopy
epilepsy
<i>SLC6A8</i>
Online Access:https://www.mdpi.com/2076-3425/13/10/1382

Internet

https://www.mdpi.com/2076-3425/13/10/1382

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