Article
Ethylmalonic encephalopathy associated with crescentic glomerulonephritis.
Metabolic brain disease - 1 Dec 2012
Dweikat Imad, Naser Enas, Damsah Nadera, Libdeh Bassam Abu, Bakri Izzeddin
Abstract excerpt
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder caused by mutations in the ETHE1 gene and characterized by chronic diarrhea, encephalopathy, relapsing petechiae and acrocyanosis. Nephrotic syndrome has been described in an infant with EE but the renal histology findings were not described in previous reports. We report a Palestinian girl with EE who presented with chronic diarrhea,...
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