Congenital Diarrhea From DGAT1 Mutation Leading to Electrolyte Derangements, Protein-losing Enteropathy, and Rickets

J Pediatr Gastroenterol Nutr. 2018 Mar;66(3):e82-e83. doi: 10.1097/MPG.0000000000001750.

Authors

Thomas L Ratchford¹, Amelia J Kirby², Hailey Pinz², Dhiren R Patel¹

Affiliations

¹ Division of Gastroenterology and Hepatology.
² Division of Medical Genetics, Department of Pediatrics, St. Louis University School of Medicine, Cardinal Glennon Children's Medical Center, St Louis, MO.

PMID: 28937539
DOI: 10.1097/MPG.0000000000001750

No abstract available

Publication types

Case Reports

MeSH terms

Diacylglycerol O-Acyltransferase / deficiency
Diacylglycerol O-Acyltransferase / genetics*
Diarrhea / congenital
Diarrhea / etiology*
Female
Genetic Diseases, Inborn / complications
Genetic Diseases, Inborn / diagnosis*
Genetic Markers
Humans
Infant
Protein-Losing Enteropathies / etiology*
Rickets / etiology*
Water-Electrolyte Imbalance / etiology*

Substances

Genetic Markers
DGAT1 protein, human
Diacylglycerol O-Acyltransferase