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Chinese case of ethylmalonic encephalopathy (brain MRI)

The red arrow indicates shadows in the temporal horn of the left lateral ventricle. (Source: Chen X, Han L, Yao H. Novel compound heterozygous variants of ETHE1 causing ethylmalonic encephalopathy in a Chinese patient: a case report. Front Genet 2020;11:341. Creative Commons Attribution [CC BY] license, creativecommons.org/licenses/by/2.0.)

Associated Disorders

  • fatty acid oxidation disorder
  • medium-chain acyl-CoA dehydrogenase deficiency
  • metabolic acidosis
  • orthostatic acrocyanosis