New Pathogenic Mutations Associated with Diacylglycerol O-Acyltransferase 1 Deficiency.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 33607125.
- Also identified by DOI 10.1016/j.jpeds.2021.02.028.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
Diacylglycerol O-acyltransferase 1 deficiency is a recently discovered, rare congenital diarrheal disorder. We report 2 patients with newly described pathogenic mutations in diacylglycerol O-acyltransferase 1 with compound heterozygous inheritance and unusual phenotypes. This included a macrophage activation syndrome-like response seen in one patient, ameliorated with low dietary fat.
Medical subject headings
- DNA
- Diacylglycerol O-Acyltransferase
- Diarrhea
- Mutation