title: Congenital hyperinsulinism in a newborn with a novel homozygous mutation (p.Q392H) in the ABCC8 gene.
abstract: Congenital hyperinsulinism is the most frequent cause of persistent hypoglycemia in infancy. We present the case of a preterm, large-for-gestation-age infant with congenital hyperinsulinism who was found to have a novel p.Q392H homozygous mutation in the ABCC8 gene. The patient had severe brain damage, despite early diagnosis and appropriate management. The new mutations may provide an understanding of the prognosis and treatment of the disease. In addition, the data will help the family make informed decisions about future pregnancies.
authors.forename: Deniz Anuk
authors.initials: DA
authors.lastname: Ince
authors.forename: Nursel Muratoglu
authors.initials: NM
authors.lastname: Sahin
authors.forename: Ayse
authors.initials: A
authors.lastname: Ecevit
authors.forename: Abdullah
authors.initials: A
authors.lastname: Kurt
authors.forename: Sibel Tulgar
authors.initials: ST
authors.lastname: Kinik
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Flanagan
authors.forename: Khalid
authors.initials: K
authors.lastname: Hussain
authors.forename: Aylin
authors.initials: A
authors.lastname: Tarcan
mesh_terms: D044903:Congenital Hyperinsulinism / Q000235:genetics* / Q000473:pathology; D005320:Fetal Macrosomia / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D064233:Sulfonylurea Receptors / Q000235:genetics*
chemical_list: C577507:ABCC8 protein, human; D064233:Sulfonylurea Receptors