Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023

Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023

Abstract Background Cerebral creatine deficiency disorders (CCDD) are rare diseases caused by defects in the enzymes L-arginine: glycine amidinotransferase (AGAT) or guanidinoacetate-N-methyltransferase (GAMT), which are involved in synthesis of creatine; or by a defect in the creatine transporter (...

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Bibliographic Details
Main Authors: Christina Kaufman, Anaïs D’Andrea, Annette Hackenberg, Martin Poms, Olivier Braissant, Johannes Häberle
Format: Article
Language:English
Published: SpringerOpen 2025-01-01
Series:Molecular and Cellular Pediatrics
Subjects:
Cerebral creatine deficiency
Diagnostic delay
Expressive speech delay
Global developmental delay
Cognitive impairment
Substitution therapy
Online Access:https://doi.org/10.1186/s40348-024-00188-4
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https://doi.org/10.1186/s40348-024-00188-4

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