Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I

Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I

In this case study, we report the case of a 13-year-old girl with citrullinemia type 1 (MIM #215700), an autosomal recessive inherited disorder of the urea cycle, which was confirmed by the identification of a homozygous pathogenic variant in the argininosuccinate synthetase 1 (ASS1) gene. However,...

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Bibliographic Details
Main Authors: Audrey Pontrucher, Magalie Barth, Alban Ziegler, Juan Manuel Chao de la Barca, Delphine Mirebeau-Prunier, Pascal Reynier, Chadi Homedan
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-11-01
Series:Frontiers in Neurology
Subjects:
ADCY5-related dyskinesia
adenylate cyclase type 5
argininosuccinate synthetase 1
citrullinemia type 1
ASS1
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1266686/full

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