ethylmalonic encephalopathy
Findings
No curated finding names ethylmalonic encephalopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0011229), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset
HPO, annotations 2026-09-02
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 11 of 11 reported patients
- Elevated circulating butyrylcarnitine concentrationHPOHP:0033446
- 1 of 1 reported patient
- Ethylmalonic aciduriaHPOHP:0003219
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Lactic acidosisHPOHP:0003128
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- 7 of 8 reported patients
Show the remaining 15
- PetechiaeHPOHP:0000967
- 5 of 8 reported patients
- Frequent (30% to 79% of cases)
- Abnormal basal ganglia MRI signal intensityHPOHP:0012751
- Frequent (30% to 79% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- DiarrheaHPOHP:0002014
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ETHE1HGNC:23287
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021