Glutaric aciduria type 1 as a cause of dystonic cerebral palsy

Glutaric aciduria type 1 (GA1) is an inherited inborn error of metabolism caused by a deficiency of the enzyme glutaryl Co-A dehydrogenase (GCDH). Here, we report a 14-month-old Saudi boy with GA1 who presented with severe dystonia and was mis-diagnosed as cerebral palsy (CP). He presented to our in...

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Detalles Bibliográficos
Autores principales: Mohamed, Sarar, Hamad, Muddathir H., Hassan, Hamdy H., Salih, Mustafa A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Saudi Medical Journal 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4673376/
https://www.ncbi.nlm.nih.gov/pubmed/26593172
http://dx.doi.org/10.15537/smj.2015.11.12132

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4673376/
https://www.ncbi.nlm.nih.gov/pubmed/26593172
http://dx.doi.org/10.15537/smj.2015.11.12132

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