Late onset AMACR deficiency with metabolic stroke-like episodes and seizures
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DOI: 10.1136/bcr-2021-247964
Abstract: Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal disorder causing pristanic acid accumulation. Only 16 cases have been described so far. A female in her seventh decade presented with episodes of dysphasia, headache and sensory… read more here.
Keywords: amacr deficiency; onset amacr; late onset; metabolic stroke ... See more keywords