Current and potential new treatment strategies for creatine deficiency syndromes.

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State: Public
Version: Final published version
License: CC BY-NC-ND 4.0
Serval ID
serval:BIB_68B2B92FD1A2
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Current and potential new treatment strategies for creatine deficiency syndromes.
Journal
Molecular genetics and metabolism
Author(s)
Fernandes-Pires G., Braissant O.
ISSN
1096-7206 (Electronic)
ISSN-L
1096-7192
Publication state
Published
Issued date
01/2022
Peer-reviewed
Oui
Volume
135
Number
1
Pages
15-26
Language
english
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
Abstract
Creatine deficiency syndromes (CDS) are inherited metabolic disorders caused by mutations in GATM, GAMT and SLC6A8 and mainly affect central nervous system (CNS). AGAT- and GAMT-deficient patients lack the functional brain endogenous creatine (Cr) synthesis pathway but express the Cr transporter SLC6A8 at blood-brain barrier (BBB), and can thus be treated by oral supplementation of high doses of Cr. For Cr transporter deficiency (SLC6A8 deficiency or CTD), current treatment strategies benefit one-third of patients. However, as their phenotype is not completely reversed, and for the other two-thirds of CTD patients, the development of novel more effective therapies is needed. This article aims to review the current knowledge on Cr metabolism and CDS clinical aspects, highlighting their current treatment possibilities and the most recent research perspectives on CDS potential therapeutics designed, in particular, to bring new options for the treatment of CTD.
Keywords
Creatine deficiency syndromes, Creatine treatment, GAMT, AGAT, Gene therapy., SLC6A8
Pubmed
Open Access
Yes
Create date
21/01/2022 17:14
Last modification date
20/07/2022 6:10
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