Anaesthetic management of an infant with MEGD(H)EL syndrome undergoing cochlear implant
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DOI: 10.1186/s12871-024-02812-2
Abstract: The syndrome has these features: 3-methylglutaconic aciduria (MEG), deafness(D), encephalopathy (E), Leigh-like syndrome (L). This disorder is caused by biallelic mutations in serine active site-containing protein 1 (SERAC1) gene. When these patients experience hepatopathy (H)… read more here.
Keywords: pathology; anaesthetic management; management infant; megd syndrome ... See more keywords