Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome

Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome

Background/purposeMEGDHEL syndrome is a rare autosomal recessive metabolic disorder, which is characterized by 3-methylglutaconic aciduria with deafness-dystonia, hepatopathy, encephalopathy and Leigh-like syndrome. It is caused by biallelic pathogenic variants in the SERAC1 gene. Due to the unspeci...

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Bibliographic Details
Main Authors: Ina Kirchberg, Elke Lainka, Andrea Gangfuß, Alma Kuechler, Fabian Baertling, Lea D. Schlieben, Dominic Lenz, Eva Tschiedel
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-02-01
Series:Frontiers in Pediatrics
Subjects:
MEGDHEL syndrome
SERAC1
hyperammonemia
liver failure
neurometabolic disorder
lactic acidosis
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1278047/full

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https://www.frontiersin.org/articles/10.3389/fped.2024.1278047/full

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