Encephalopathy, ethylmalonic

Preferred Label : Encephalopathy, ethylmalonic;

Symbol : EE;

CISMeF acronym : EE;

Type : Phenotype, molecular basis known;

Description : Ethylmalonic encephalopathy is an autosomal recessive severe metabolic disorder of infancy affecting the brain, gastrointestinal tract, and peripheral vessels. The disorder is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea. Brain MRI shows necrotic lesions in deep gray matter structures. Death usually occurs in the first decade of life (summary by Drousiotou et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ETHE1 gene (ETHE1, 608451.0001);

Laboratory abnormalities : Lactic acidemia; Ethylmalonic aciduria; Methylsuccinic aciduria; Cytochrome c oxidase deficiency in skeletal muscle and brain; Increased serum C4 and C5 acylcarnitine esters; Increased urinary isobutyryl glycine; Increased urinary 2-methylbutyryl glycine; Increased urinary thiosulphate;

Prefixed ID : #602473;

Details

Origin ID

602473;

UMLS CUI

C1865349;

Automatic exact mappings (from CISMeF team)
- encephalomyelitis, equine [MeSH concept]
- encephalomyelitis, equine [MeSH Descriptor]
- exercise test [MeSH Descriptor]
Currated CISMeF NLP mapping
- Ethylmalonic encephalopathy [ICD-11 More detail]
- Ethylmalonic encephalopathy [MeSH concept]
- Ethylmalonic encephalopathy [ORDO Disease]
- Ethylmalonic encephalopathy (disorder) [SNOMED CT concept]
- ethylmalonic encephalopathy [DO Concept]
- ethylmalonic encephalopathy [MeSH Supplementary Concept]
DO Cross reference
- ethylmalonic encephalopathy [DO Concept]
False automatic mappings
- Estonia [NCIt concept]
Genes related to phenotype
- Ethe1 persulfide dioxygenase [OMIM gene]
HPO term(s)
- Abnormal retinal vascular morphology [HPO term]
- Abnormality of extrapyramidal motor function [HPO term]
- Acrocyanosis [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Chronic diarrhea [HPO term]
- Cytochrome C oxidase-negative muscle fibers [HPO term]
- Death in infancy [HPO term]
- Developmental regression [HPO term]
- Elevated circulating butyrylcarnitine concentration [HPO term]
- Encephalopathy [HPO term]
- Ethylmalonic aciduria [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Focal T2 hyperintense basal ganglia lesion [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Lactic acidosis [HPO term]
- Petechiae [HPO term]
- Retinal lesions [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Ethylmalonic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ethylmalonic encephalopathy [ORDO Disease]
- Ethylmalonic encephalopathy [MeSH concept]
- Ethylmalonic encephalopathy [ICD-11 More detail]
- Ethylmalonic encephalopathy (disorder) [SNOMED CT concept]
- ethylmalonic encephalopathy [MeSH Supplementary Concept]
- ethylmalonic encephalopathy [DO Concept]

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