Article
Hyperinsulinism-hyperammonemia syndrome in two Peruvian children with refractory epilepsy.
Journal of pediatric endocrinology & metabolism : JPEM - 23 Feb 2023
De Los Santos-La Torre Miguel Angel, Del Águila-Villar Carlos Manuel, Lu-de Lama Luis Rómulo, Nuñez-Almache Oswaldo, Chávez-Tejada Eliana Manuela, Espinoza-Robles Oscar Antonio, Pinto-Ibárcena Paola Marianella, Calagua-Quispe Martha Rosario, Azabache-Tafur Pamela Miluska, Tucto-Manchego Rosa María
Abstract excerpt
OBJECTIVES: Congenital hyperinsulinism (HI) is a heterogeneous clinical disorder with great variability in its clinical phenotype, and to date, pathogenic variants in 23 genes have been recognized. Hyperinsulinism-hyperammonemia syndrome (HI/HA) is the second most frequent cause of this disease that shows an autosomal dominant pattern and is caused by an activating mutation of the GLUD1 gene, which responds...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.