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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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| Pubblicato in: | Saudi Med J |
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| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Saudi Medical Journal
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4673376/ https://ncbi.nlm.nih.gov/pubmed/26593172 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15537/smj.2015.11.12132 |
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