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Article

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.

Journal of inherited metabolic disease - 1 Dec 2010

Barth Magalie, Ottolenghi Chris, Hubert Laurence, Chrétien Dominique, Serre Valérie, Gobin Stéphanie, Romano Stéphane, Vassault Anne, Sefiani Aziz, Ricquier Daniel, Boddaert Nathalie, Brivet Michèle, de Keyzer Yves, Munnich Arnold, Duran Marinus, Rabier Daniel, Valayannopoulos Vassili, de Lonlay Pascale

Abstract excerpt

Ethylmalonic encephalopathy (EE) is a rare metabolic disorder caused by dysfunction of ETHE1, a mitochondrial dioxygenase involved in hydrogen sulfide (H2S) detoxification. Patients present in infancy with psychomotor retardation, chronic diarrhea, orthostatic acrocyanosis and relapsing petechiae. High levels of lactic acid, ethymalonic acid (EMA) and methylsuccinic acid (MSA) are detected in body fluids. Several...

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Source

Identifiers

PMID: 20978941
DOI: 10.1007/s10545-010-9227-y

Genes

ETHE1

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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Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.PMID 20978941Read ↗

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