dc.date.accessioned | 2021-02-01T20:20:04Z | |
dc.date.available | 2021-02-01T20:20:04Z | |
dc.date.created | 2020-11-12T12:09:15Z | |
dc.date.issued | 2020 | |
dc.identifier.citation | Conte, Federica Morava, Eva Bakar, Nurulamin Abu Wortmann, Saskia B. Poerink, Anne Jonge Grunewald, Stephanie Crushell, Ellen Al-Gazali, Lihadh de Vries, Maaike C. Mørkrid, Lars Hertecant, Jozef Brocke, Katja Sara Kronn, David Feigenbaum, Annette Fingerhut, Ralph Wong, Sunnie Yan-Wai Van Scherpenzeel, Monique Voermans, Nicol C. Lefeber, Dirk J. . Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots. Molecular Genetics and Metabolism. 2020, 131(1-2), 135-146 | |
dc.identifier.uri | http://hdl.handle.net/10852/82795 | |
dc.description.abstract | Phosphoglucomutase 1 deficiency is a congenital disorder of glycosylation (CDG) with multiorgan involvement affecting carbohydrate metabolism, N-glycosylation and energy production. The metabolic management consists of dietary D-galactose supplementation that ameliorates hypoglycemia, hepatic dysfunction, endocrine anomalies and growth delay. Previous studies suggest that D-galactose administration in juvenile patients leads to more significant and long-lasting effects, stressing the urge of neonatal diagnosis (0–6 months of age).
Here, we detail the early clinical presentation of PGM1-CDG in eleven infantile patients, and applied the modified Beutler test for screening of PGM1-CDG in neonatal dried blood spots (DBSs).
All eleven infants presented episodic hypoglycemia and elevated transaminases, along with cleft palate and growth delay (10/11), muscle involvement (8/11), neurologic involvement (5/11), cardiac defects (2/11). Standard dietary measures for suspected lactose intolerance in four patients prior to diagnosis led to worsening of hypoglycemia, hepatic failure and recurrent diarrhea, which resolved upon D-galactose supplementation. To investigate possible differences in early vs. late clinical presentation, we performed the first systematic literature review for PGM1-CDG, which highlighted respiratory and gastrointestinal symptoms as significantly more diagnosed in neonatal age.
The modified Butler-test successfully identified PGM1-CDG in DBSs from seven patients, including for the first time Guthrie cards from newborn screening, confirming the possibility of future inclusion of PGM1-CDG in neonatal screening programs.
In conclusion, severe infantile morbidity of PGM1-CDG due to delayed diagnosis could be prevented by raising awareness on its early presentation and by inclusion in newborn screening programs, enabling early treatments and galactose-based metabolic management. | |
dc.language | EN | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.title | Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots | |
dc.type | Journal article | |
dc.creator.author | Conte, Federica | |
dc.creator.author | Morava, Eva | |
dc.creator.author | Bakar, Nurulamin Abu | |
dc.creator.author | Wortmann, Saskia B. | |
dc.creator.author | Poerink, Anne Jonge | |
dc.creator.author | Grunewald, Stephanie | |
dc.creator.author | Crushell, Ellen | |
dc.creator.author | Al-Gazali, Lihadh | |
dc.creator.author | de Vries, Maaike C. | |
dc.creator.author | Mørkrid, Lars | |
dc.creator.author | Hertecant, Jozef | |
dc.creator.author | Brocke, Katja Sara | |
dc.creator.author | Kronn, David | |
dc.creator.author | Feigenbaum, Annette | |
dc.creator.author | Fingerhut, Ralph | |
dc.creator.author | Wong, Sunnie Yan-Wai | |
dc.creator.author | Van Scherpenzeel, Monique | |
dc.creator.author | Voermans, Nicol C. | |
dc.creator.author | Lefeber, Dirk J. | |
cristin.unitcode | 185,53,18,14 | |
cristin.unitname | Avdeling for medisinsk biokjemi | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 1 | |
dc.identifier.cristin | 1847366 | |
dc.identifier.bibliographiccitation | info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Molecular Genetics and Metabolism&rft.volume=131&rft.spage=135&rft.date=2020 | |
dc.identifier.jtitle | Molecular Genetics and Metabolism | |
dc.identifier.volume | 131 | |
dc.identifier.issue | 1-2 | |
dc.identifier.startpage | 135 | |
dc.identifier.endpage | 146 | |
dc.identifier.doi | https://doi.org/10.1016/j.ymgme.2020.08.003 | |
dc.identifier.urn | URN:NBN:no-85631 | |
dc.type.document | Tidsskriftartikkel | |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 1096-7192 | |
dc.identifier.fulltext | Fulltext https://www.duo.uio.no/bitstream/handle/10852/82795/1/Postnr%2B1847366_Conte%2Bet%2Bal_Mol%2BGen%2BMetab_1-s2.0-S1096719220301852-main.pdf | |
dc.type.version | PublishedVersion | |