ethylmalonic encephalopathy
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.
MONDO:0044970
mitochondrial disease
is_a
MONDO:0100198
Mendelian encephalopathy
is_a
EE
related
EPEMA syndrome
related
eme
related
encephalopathy, ethylmalonic
related
encephalopathy, petechiae, and ethylmalonic aciduria
related
syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
related