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

• Автори: Ina Kirchberg (Автор), Elke Lainka (Автор), Andrea Gangfuß (Автор), Alma Kuechler (Автор), Fabian Baertling (Автор), Lea D. Schlieben (Автор), Dominic Lenz (Автор), Eva Tschiedel (Автор)
• Формат: Книга
• Опубліковано: Frontiers Media S.A., 2024-02-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: 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...