Ethylmalonic encephalopathy caused by biallelic truncating variants in ETHE1: A case report

Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by biallelic pathogenic variants in ETHE1 , the gene encoding mitochondrial persulfide dioxygenase, an enzyme crucial for hydrogen sulfide (H 2 S) detoxification. Loss of this enzyme results in H 2 S accumulation...

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Auteurs principaux:	Delmer-Alejandro Ruiz-Martinez, Emilio-Rodrigo Vega-Peniche, Yazmin Quiñonez-Pacheco, Hugo Laviada-Molina, Carlos-Alejandro Medina-Campos, Felix-Julian Campos-Garcia
Format:	Artigo
Langue:	Inglês
Publié:	SAGE Publishing 2026-01-01
Collection:	SAGE Open Medical Case Reports
Accès en ligne:	https://doi.org/10.1177/2050313X251412221
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