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Sökning: onr:"swepub:oai:lup.lub.lu.se:c3636bd3-3f9a-4251-91a0-189434ece38a" > ALG13-Congenital Di...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004241naa a2200481 4500
001oai:lup.lub.lu.se:c3636bd3-3f9a-4251-91a0-189434ece38a
003SwePub
008240520s2024 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/c3636bd3-3f9a-4251-91a0-189434ece38a2 URI
0247 a https://doi.org/10.1016/j.ymgme.2024.1084722 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a for2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Shah, Rameenu Mayo Clinic Minnesota,Mayo Clinic Graduate School of Biomedical Sciences4 aut
2451 0a ALG13-Congenital Disorder of Glycosylation (ALG13-CDG) : Updated clinical and molecular review and clinical management guidelines
264 1c 2024
520 a ALG13-Congenital Disorder of Glycosylation (CDG), is a rare X-linked CDG caused by pathogenic variants in ALG13 (OMIM 300776) that affects the N-linked glycosylation pathway. Affected individuals present with a predominantly neurological manifestation during infancy. Epileptic spasms are a common presenting symptom of ALG13-CDG. Other common phenotypes include developmental delay, seizures, intellectual disability, microcephaly, and hypotonia. Current management of ALG13-CDG is targeted to address patients’ symptoms. To date, less than 100 individuals have been reported with ALG13-CDG. In this article, an international group of experts in CDG reviewed all reported individuals affected with ALG13-CDG and suggested diagnostic and management guidelines for ALG13-CDG. The guidelines are based on the best available data and expert opinion. Neurological symptoms dominate the phenotype of ALG13-CDG where epileptic spasm is confirmed to be the most common presenting symptom of ALG13-CDG in association with hypotonia and developmental delay. We propose that ACTH/prednisolone treatment should be trialed first, followed by vigabatrin, however ketogenic diet has been shown to have promising results in ALG13-CDG. In order to optimize medical management, we also suggest early cardiac, gastrointestinal, skeletal, and behavioral assessments in affected patients.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng
653 a ALG13-CDG
653 a Congenital disorders of glycosylation
653 a Epileptic spasm
653 a Seizure disorder
653 a X-linked CDG
7001 a Eklund, Erik A.u Lund University,Lunds universitet,Epilepsicentrum,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Epilepsy Center,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,University of Oxford4 aut0 (Swepub:lu)medk-eek
7001 a Radenkovic, Silviau Mayo Clinic Minnesota4 aut
7001 a Sadek, Mustafau Mayo Clinic Minnesota4 aut
7001 a Shammas, Ibrahimu Mayo Clinic Minnesota4 aut
7001 a Verberkmoes, Sanneu Mayo Clinic Minnesota4 aut
7001 a Ng, Bobby G.u Sanford Burnham Prebys Medical Discovery Institute4 aut
7001 a Freeze, Hudson H.u Sanford Burnham Prebys Medical Discovery Institute4 aut
7001 a Edmondson, Andrew C.u The Children's Hospital of Philadelphia4 aut
7001 a He, Miaou The Children's Hospital of Philadelphia4 aut
7001 a Kozicz, Tamasu Mayo Clinic Graduate School of Biomedical Sciences,Mayo Clinic Minnesota,University of Pécs4 aut
7001 a Altassan, Ruqaiahu King Faisal Specialist Hospital and Research Centre,Mayo Clinic Minnesota,Alfaisal University4 aut
7001 a Morava, Evau University of Pécs,Mayo Clinic Minnesota4 aut
7102 a Mayo Clinic Minnesotab Mayo Clinic Graduate School of Biomedical Sciences4 org
7730 t Molecular Genetics and Metabolismg 142:2q 142:2x 1096-7192
8564 u http://dx.doi.org/10.1016/j.ymgme.2024.108472y FULLTEXT
8564 8u https://lup.lub.lu.se/record/c3636bd3-3f9a-4251-91a0-189434ece38a
8564 8u https://doi.org/10.1016/j.ymgme.2024.108472

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