ethylmalonic encephalopathy

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A syndrome characterized by ethylmalonic and methylsuccinic aciduria and lactic acidaemia associated with developmental delay, acrocyanosis, petechiae, and chronic diarrhoea. It is caused by mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, although the nature of the metabolic disorder is unclear.

Subjects: Medicine and Health.

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