Article
Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.
Journal of pediatric gastroenterology and nutrition - 1 May 2017
Haberman Yael, Di Segni Ayelet, Loberman-Nachum Nurit, Barel Ortal, Kunik Vered, Eyal Eran, Kol Nitzan, Hout-Siloni Goni, Kochavi Brigitte, Avivi Camila, Schvimer Michael, Rechavi Gideon, Anikster Yair, Barshack Iris, Weiss Batia
Abstract excerpt
OBJECTIVES: Congenital diarrheal disorders is a group of inherited enteropathies presenting in early life and requiring parenteral nutrition. In most cases, genetics may be the key for precise diagnosis. We present an infant girl with chronic congenital diarrhea that resolved after introduction of fructose-based formula but had no identified mutation in the SLC5A1 gene. Using whole exome sequencing (WES) we...
Topics
- Carbohydrate Metabolism, Inborn Errors
- Female
- Genetic Markers
- Heterozygote
- Humans
- Infant
- Male
- Mutation
- Sucrase-Isomaltase Complex
- Exome Sequencing