ethylmalonic encephalopathy

Genetics

• autosomal recessive
• associated with defects in ETHE1 gene Clinical maniifestations:
• neurodevelopmental delay & regression
• recurrent petechiae
• acrocyanosis
• diarrhea
• death in the first decade of life

Laboratory

• persistent lactic acidemia
• ethylmalonic & methylsuccinic aciduria

More general terms

• encephalopathy
• genetic syndrome (multisystem disorder)
• developmental disorder

Database

• OMIM: https://mirror.omim.org/entry/602473