ethylmalonic encephalopathy

Term ID

DOID:0060640

Synonyms

Definition

A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13. (3)

References

• GARD:2198
• MESH:C535737
• OMIM:602473
• ORDO:51188
• SNOMEDCT_US_2023_03_01:723307008
• UMLS_CUI:C1865349

Ontology

Human Disease   ( DOID:0060640 )