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

• Main Authors: Ina Kirchberg (Author), Elke Lainka (Author), Andrea Gangfuß (Author), Alma Kuechler (Author), Fabian Baertling (Author), Lea D. Schlieben (Author), Dominic Lenz (Author), Eva Tschiedel (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...