Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review

Dopa-responsive dystonia (DRD) comprises a group of rare but treatable dystonias that exhibit diurnal fluctuation. The GCH1 gene encodes GTP cyclohydrolase-1 (GTPCH-І), a protein that catalyzes the first rate-limiting step of tetrahydrobiopterin biosynthesis. Pathogenic variants in GCH1 are the most...

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Detalles Bibliográficos
Autores principales: Chen, Yun, Liu, Kaiyu, Yang, Zailan, Wang, Yaozhou, Zhou, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9532011/
https://www.ncbi.nlm.nih.gov/pubmed/36204308
http://dx.doi.org/10.3389/fgene.2022.929069

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9532011/
https://www.ncbi.nlm.nih.gov/pubmed/36204308
http://dx.doi.org/10.3389/fgene.2022.929069

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