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

被引：1

作者：

Shah, Rameen ^{[1
,2
]}

Eklund, Erik A. ^{[3
,4
]}

Radenkovic, Silvia ^{[1
]}

Sadek, Mustafa ^{[1
]}

Shammas, Ibrahim ^{[1
]}

Verberkmoes, Sanne ^{[1
]}

Ng, Bobby G. ^{[5
]}

Freeze, Hudson H. ^{[5
]}

Edmondson, Andrew C. ^{[6
]}

He, Miao ^{[7
]}

Kozicz, Tamas ^{[1
,2
,8
,9
]}

Altassan, Ruqaiah ^{[1
,10
,11
]}

Morava, Eva ^{[1
,8
,9
]}

机构：

[1] Mayo Clin, Dept Clin Genom, 200 First St SW, Rochester, MN 55905 USA

[2] Mayo Clin, Dept Biochem & Mol Biol, Rochester, MN USA

[3] Lund Univ, Dept Clin Sci, Pediat, Lund, Sweden

[4] Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, England

[5] Sanford Burnham Prebys Med Discovery Inst, Sanford Childrens Hlth Res Ctr, Human Genet Program, La Jolla, CA 92037 USA

[6] Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA USA

[7] Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA USA

[8] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA

[9] Univ Pecs, Med Sch, Pecs, Hungary

[10] King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Med Genom Dept, POB 3354, Riyadh 11211, Saudi Arabia

[11] Alfaisal Univ, Coll Med, Riyadh, Saudi Arabia

来源：

MOLECULAR GENETICS AND METABOLISM | 2024年 / 142卷 / 02期

关键词：

ALG13-CDG; Congenital disorders of glycosylation; X-linked CDG; Epileptic spasm; Seizure disorder; CONGENITAL DISORDERS; SEIZURES; DIAGNOSIS; VARIANT;

D O I：

10.1016/j.ymgme.2024.108472

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 ALG13CDG 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.

引用

页数：6