ABSTRACT
Progressive neurodegenerative disease, acrocyanosis, petechial skin lesions, episodic acidosis, neuroimaging and neuropathologic evidence of basal ganglia lesions, lactic academia, ethylmalonic aciduria, and mutations in the ETH1 gene.
Progressive neurodegenerative disease, acrocyanosis, petechial skin lesions, episodic acidosis, neuroimaging and neuropathologic evidence of basal ganglia lesions, lactic academia, ethylmalonic aciduria, and mutations in the ETH1 gene.