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Article

Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Nov 2023

Platt Isobel, Bisgin Atil, Kilavuz Sebile

Abstract excerpt

BACKGROUND: Ethylmalonic encephalopathy (EE) is a rare intoxication-type metabolic disorder with multisystem involvement. It is caused by mutations in ETHE1, which encodes the ETHE1 enzyme in the mitochondrial matrix that plays a key role in hydrogen sulfide (H2S) detoxification acting as a sulphur dioxygenase. RESULTS: This review focuses on the clinical, metabolic, genetic and neuroradiological features of 70...

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Source

Identifiers

PMID: 37458841
DOI: 10.1007/s10072-023-06904-8

Genes

ETHE1
C5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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