Ethylmalonic encephalopathy

Evidence-based neurology checklist on ethylmalonic encephalopathy: Genetics This results from mutations of the ETHE1 gene ETH1 is a mitochondrial dioxygenase which detoxifies hydrogen sulfide (H2S) The transmission is autosomal recessive Clinical features Differential diagnosis Blood tests Urinary…

Genetics

  • This results from mutations of the ETHE1 gene
  • ETH1 is a mitochondrial dioxygenase which detoxifies hydrogen sulfide (H2S)
  • The transmission is autosomal recessive

Clinical features

Differential diagnosis

Blood tests

Urinary organic acids

Magnetic resonance imaging (MRI) brain: features

Treatment

References

  1. Bijarnia-Mahay S, Gupta D, Shigematsu Y, Yamaguchi S, Saxena R, Verma IC. Ethylmalonic encephalopathy in an Indian boy. Indian Pediatr 2016; 53:914-916.
  2. Barth M, Ottolenghi C, Hubert L, et al. Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. J Inherit Metab Dis 2010; 33(Suppl 3):S443-S453.
  3. Zafeiriou DI, Augoustides-Savvopoulou P, Haas D, et al. Ethylmalonic encephalopathy: clinical and biochemical observations. Neuropediatrics 2007; 38:78-82.
  4. Govindaraj P, Parayil Sankaran B, Nagappa M, et al. Child Neurology: Ethylmalonic encephalopathy. Neurology 2020; 94:e1336-e1339. 
  5. Dweikat I, Naser E, Damsah N, Libdeh BA, Bakri I. Ethylmalonic encephalopathy associated with crescentic glomerulonephritis. Metab Brain Dis 2012; 27:613-616.
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