Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.
Comprehensive, easy-to-understand information about this condition
Checking for content...
inborn mitochondrial metabolism disorder
MONDO:0004069
encephalopathy, recurrent, of childhood
MONDO:0007539
encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts
MONDO:0009164
Bonnemann-Meinecke-Reich syndrome
MONDO:0009167
hereditary myopathy with lactic acidosis due to ISCU deficiency
MONDO:0009706
Bjornstad syndrome
MONDO:0009872