Horvath_2021_Cureus_13_e17761

Reference

Title : MEGDEL Syndrome and Its Anesthetic Implications - Horvath_2021_Cureus_13_e17761
Author(s) : Horvath B , Pfister KM , Rupp A , Kloesel B
Ref : Cureus , 13 :e17761 , 2021
Abstract :

MEGDEL syndrome gains its name for its following features: 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E), Leigh-like syndrome (L). This syndrome is caused by biallelic mutations in the serine active site-containing protein 1 (SERAC1 ) gene. When these patients present with hepatopathy (H) in addition to the above manifestations the syndrome is labeled as MEGD(H)EL. The pathology of the disease shares features with different types of inborn errors of metabolism. We present the anesthetic management of a neonate who was diagnosed with MEGD(H)EL syndrome and underwent diagnostic magnetic resonance imaging of the brain at 14 days of postnatal age. We describe the epidemiology and important features of this rare disease that are pertinent for the anesthesiologist.

PubMedSearch : Horvath_2021_Cureus_13_e17761
PubMedID: 34540505
Gene_locus related to this paper: human-SERAC1

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Citations formats

Horvath B, Pfister KM, Rupp A, Kloesel B (2021)
MEGDEL Syndrome and Its Anesthetic Implications
Cureus 13 :e17761

Horvath B, Pfister KM, Rupp A, Kloesel B (2021)
Cureus 13 :e17761