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ALG13-Congenital Disorder of Glycosylation (ALG13-CDG) : Updated clinical and molecular review and clinical management guidelines

Shah, Rameen ; Eklund, Erik A. LU ; Radenkovic, Silvia ; Sadek, Mustafa ; Shammas, Ibrahim ; Verberkmoes, Sanne ; Ng, Bobby G. ; Freeze, Hudson H. ; Edmondson, Andrew C. and He, Miao , et al. (2024) In Molecular Genetics and Metabolism 142(2).
Abstract

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... (More)

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.

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type
Contribution to journal
publication status
published
subject
keywords
ALG13-CDG, Congenital disorders of glycosylation, Epileptic spasm, Seizure disorder, X-linked CDG
in
Molecular Genetics and Metabolism
volume
142
issue
2
article number
108472
publisher
Elsevier
external identifiers
  • pmid:38703411
  • scopus:85192097204
ISSN
1096-7192
DOI
10.1016/j.ymgme.2024.108472
language
English
LU publication?
yes
id
c3636bd3-3f9a-4251-91a0-189434ece38a
date added to LUP
2024-05-20 12:48:17
date last changed
2024-06-17 14:24:24
@article{c3636bd3-3f9a-4251-91a0-189434ece38a,
  abstract     = {{<p>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.</p>}},
  author       = {{Shah, Rameen and Eklund, Erik A. and Radenkovic, Silvia and Sadek, Mustafa and Shammas, Ibrahim and Verberkmoes, Sanne and Ng, Bobby G. and Freeze, Hudson H. and Edmondson, Andrew C. and He, Miao and Kozicz, Tamas and Altassan, Ruqaiah and Morava, Eva}},
  issn         = {{1096-7192}},
  keywords     = {{ALG13-CDG; Congenital disorders of glycosylation; Epileptic spasm; Seizure disorder; X-linked CDG}},
  language     = {{eng}},
  number       = {{2}},
  publisher    = {{Elsevier}},
  series       = {{Molecular Genetics and Metabolism}},
  title        = {{ALG13-Congenital Disorder of Glycosylation (ALG13-CDG) : Updated clinical and molecular review and clinical management guidelines}},
  url          = {{http://dx.doi.org/10.1016/j.ymgme.2024.108472}},
  doi          = {{10.1016/j.ymgme.2024.108472}},
  volume       = {{142}},
  year         = {{2024}},
}