Glutaric Aciduria Type I: A Rare Metabolic Disorder Mimicking as Choreoathetoid Cerebral Palsy

Glutaric aciduria type I (GA I) is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. This disorder is characterized by progressive dystonia, choreoathetosis, and dyskinesia. It is often misdiagnosed as athetoid cerebral palsy. Laborato...

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Detalles Bibliográficos
Autores principales: Sarangi, Pradosh Kumar, Sahoo, Lulup Kumar, Mallick, Ashok Kumar, Dash, Prafulla Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437801/
https://www.ncbi.nlm.nih.gov/pubmed/28553392
http://dx.doi.org/10.4103/jpn.JPN_165_16

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437801/
https://www.ncbi.nlm.nih.gov/pubmed/28553392
http://dx.doi.org/10.4103/jpn.JPN_165_16

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