Ethylmalonic encephalopathy

Synonym(s)
- Mitochondrial sulfur dioxygenase deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ETHE1 / ethylmalonic encephalopathy 1
  19q13.31
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Ethylmalonic encephalopathy protein 1, mitochondrial
Pathway
- Metabolism of sulfur-containing amino acids and hydrogen sulfide
Disease group(s)
- 13.4 Disorders of the metabolism of hydrogen sulfide and other sulfur-containing metabolites