| Chapter title |
DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion
|
|---|---|
| Chapter number | 7 |
| Book title |
JIMD Reports, Volume 34
|
| Published in |
JIMD Reports, August 2016
|
| DOI | 10.1007/8904_2016_7 |
| Pubmed ID | |
| Book ISBNs |
978-3-66-255585-9, 978-3-66-255586-6
|
| Authors |
Bursle, C, Brown, D, Cardinal, J, Connor, F, Calvert, S, Coman, D, C. Bursle, D. Brown, J. Cardinal, F. Connor, S. Calvert, D. Coman, Bursle, C., Brown, D., Cardinal, J., Connor, F., Calvert, S., Coman, D. |
| Abstract |
The literature describes eight cases of mutations in the DPM1 gene generating DMP1-CDG, causing similar phenotype of early onset seizures, microcephaly and developmental delay. Investigations of these patients revealed associated abnormal findings on brain imaging, elevated CK, abnormal clotting factors and mildly deranged serum transaminases. We describe the ninth case of DMP1-CDG, whose clinical presentation includes severe gastrointestinal involvement, i.e. food protein induced enterocolitis syndrome (FPIES). Gastrointestinal manifestations (GIT) of the congenital glycosylation disorders have included deranged liver function, hepatomegaly, liver fibrosis, steatosis and protein-losing enteropathy. This is the first report of a congenital glycosylation disorder being associated with FPIES. |
Mendeley readers
Geographical breakdown
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|---|---|---|
| Unknown | 10 | 100% |
Demographic breakdown
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|---|---|---|
| Researcher | 3 | 30% |
| Other | 3 | 30% |
| Student > Master | 2 | 20% |
| Student > Bachelor | 1 | 10% |
| Unknown | 1 | 10% |
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| Agricultural and Biological Sciences | 1 | 10% |
| Economics, Econometrics and Finance | 1 | 10% |
| Materials Science | 1 | 10% |
| Other | 0 | 0% |
| Unknown | 2 | 20% |