D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene

D-2-hydroxyglutaric aciduria is a rare neurometabolic condition with a variable clinical spectrum. Here we report on a patient with speech delay, ascertained for an elevated urine 2-hydroxyglutaric acid levels, and found to have a novel pathogenic homozygous deletion in D2HGDH (NG_012012.1(NM_152783...

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Detalles Bibliográficos
Autores principales: Phillips, E., Sasarman, F., Sinasac, D.S., Al-Hertani, W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6580329/
https://www.ncbi.nlm.nih.gov/pubmed/31431883
http://dx.doi.org/10.1016/j.ymgmr.2019.100482

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6580329/
https://www.ncbi.nlm.nih.gov/pubmed/31431883
http://dx.doi.org/10.1016/j.ymgmr.2019.100482

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