Article
Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy.
Molecular genetics and metabolism - 1 May 2018
Boyer M, Sowa M, Di Meo I, Eftekharian S, Steenari M R, Tiranti V, Abdenur J E
Abstract excerpt
Ethylmalonic encephalopathy (EE) is a devastating neurodegenerative disease caused by mutations in the ETHE1 gene critical for hydrogen sulfide (H2S) detoxification. Patients present in infancy with hypotonia, developmental delay, diarrhea, orthostatic acrocyanosis and petechiae. Biochemical findings include elevated C4, C5 acylcarnitines and lactic and ethylmalonic acid (EMA) in body fluids. Current treatment...
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