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
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
收藏
页数:6
相关论文
共 50 条
  • [1] Long-term outcomes in ALG13-Congenital Disorder of Glycosylation
    Shah, Rameen
    Johnsen, Christin
    Pletcher, Beth A.
    Edmondson, Andrew C.
    Kozicz, Tamas
    Morava, Eva
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191 (06) : 1626 - 1631
  • [2] Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG
    Mitusinska, Karolina
    Gora, Artur
    Bogdanska, Anna
    Rozdzynska-Swiatkowska, Agnieszka
    Tylki-Szymanska, Anna
    Jezela-Stanek, Aleksandra
    BIOMOLECULES, 2022, 12 (03)
  • [3] ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines
    Albokhari, Daniah
    Ng, Bobby G.
    Guberinic, Alis
    Daniel, Earnest James Paul
    Engelhardt, Nicole M.
    Barone, Rita
    Fiumara, Agata
    Garavelli, Livia
    Trimarchi, Gabriele
    Wolfe, Lynne
    Raymond, Kimiyo M.
    Morava, Eva
    He, Miao
    Freeze, Hudson H.
    Lam, Christina
    Edmondson, Andrew C.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2022, 45 (05) : 969 - 980
  • [4] A Novel Congenital Disorder of Glycosylation Caused by Deficiency in ALG11 (ALG11-CDG)
    Regal, Luc
    Vleugels, Wendy
    Race, Valerie
    Foulquier, Francois
    De Meirleir, Linda
    Jansen, Katrien
    Jaeken, Jaak
    Matthijs, Gert
    NEUROLOGY, 2010, 74 (09) : A273 - A273
  • [5] ALG13-CDG Brain Organoids Exhibit Glycosylation Defects and Altered Gene Expression, Providing Insights into Neuronal Pathology
    Shah, Rameen
    Radenkovic, Silvia
    Budhraja, Rohit
    King, Alexia Tyler
    Bleukx, Charlotte
    Shammas, Ibrahim
    Pandey, Akhilesh
    Sloan, Steven
    Kozicz, Tamas
    Morava, Eva
    GLYCOBIOLOGY, 2023, 33 (11) : 964 - 964
  • [6] Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature
    Tahata, Shawn
    Gunderson, Lauren
    Lanpher, Brendan
    Morava, Eva
    MOLECULAR GENETICS AND METABOLISM, 2019, 128 (04) : 409 - 414
  • [7] Pediatric Anesthetic Management of a Patient With an ALG-13 Gene Mutation, a Rare Congenital Disorder of Glycosylation
    Thakkar, Esha
    Iasiello, John A.
    Cai, Sunny R.
    Hutton, Adrienne
    CLINICAL CASE REPORTS, 2025, 13 (01):
  • [8] ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing
    Gadomski, Therese E.
    Bolton, Melody
    Alfadhel, Majid
    Dvorak, Chris
    Ogunsakin, Olalekan A.
    Nelson, Stephen L.
    Morava, Eva
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (10) : 2772 - 2775
  • [9] Duane syndrome in association with congenital disorder of glycosylation type Ig (ALG12-CDG)
    Li, Joy
    Kolin, David A.
    Nallasamy, Sudha
    Kolin, Talia
    JOURNAL OF AAPOS, 2024, 28 (04):
  • [10] Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation
    Jaak Jaeken
    Dirk Lefeber
    Gert Matthijs
    European Journal of Human Genetics, 2015, 23 : 1 - 3