New Pathogenic Mutations Associated with Diacylglycerol O-Acyltransferase 1 Deficiency
| Autor: | Lesley Rawlings, Jessica Allison Eldredge, Michael R. Couper, Richard Couper, Christopher P. Barnett |
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| Rok vydání: | 2021 |
| Předmět: |
Mutation
business.industry Compound heterozygosity medicine.disease_cause Phenotype Microbiology 03 medical and health sciences 0302 clinical medicine Diacylglycerol O-Acyltransferase 030225 pediatrics Pediatrics Perinatology and Child Health Diarrheal disorder medicine Macrophage 030212 general & internal medicine business Dietary fat Diacylglycerol kinase |
| Zdroj: | The Journal of Pediatrics. 233:268-272 |
| ISSN: | 0022-3476 |
| DOI: | 10.1016/j.jpeds.2021.02.028 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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