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 |
Mutation | R387X_human-SERAC1 S498T_human-SERAC1 |
Gene_locus | human-SERAC1 |
Disease | MEGDEL syndrome |
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