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ethylmalonic encephalopathy

Genetics: 1) autosomal recessive 2) associated with defects in ETHE1 gene Clinical maniifestations: 1) neurodevelopmental delay & regression 2) recurrent petechiae 3) acrocyanosis 4) diarrhea 5) death in the first decade of life Laboratory: 1) persistent lactic acidemia 2) ethylmalonic & methylsuccinic aciduria

General

encephalopathy genetic syndrome (multisystem disorder) developmental disorder

Database Correlations

OMIM 602473

References

  1. OMIM :accession 602473
  2. GeneReviews http://www.genetests.org/query?gene=ETHE1