Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature

Glycine encephalopathy (MIM #605899) is an autosomal recessive inborn error of metabolism caused by pathogenic variants in three genes GLDC, AMT, GCSH encoding glycine cleavage enzyme system. We report an 8-year-old boy with late-onset glycine encephalopathy who harbors a novel homozygous GLDC likel...

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Detalles Bibliográficos
Autores principales: Huynh, Minh-Tuan, Landais, Emilie, Agathe, Jean-Madeleine De Sainte, Panchout, Anne, Caroline, De Vanssay De Blavous-Legendre, Bruel, Henri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9932748/
https://www.ncbi.nlm.nih.gov/pubmed/36817643
http://dx.doi.org/10.1016/j.ymgmr.2023.100959

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9932748/
https://www.ncbi.nlm.nih.gov/pubmed/36817643
http://dx.doi.org/10.1016/j.ymgmr.2023.100959

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