ALG11-CDG: novel variant and review of the literature

Ayşenur Engin Erdal; Ahmet Cevdet Ceylan; Kıvılcım Gücüyener; Rıdvan Murat Öktem; Oya Kıreker Köylü; Çiğdem Seher Kasapkara

doi:10.1515/jpem-2022-0480

Article

ALG11-CDG: novel variant and review of the literature

Ayşenur Engin Erdal , Ahmet Cevdet Ceylan , Kıvılcım Gücüyener , Rıdvan Murat Öktem , Oya Kıreker Köylü and Çiğdem Seher Kasapkara

Published/Copyright: February 28, 2023

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 36 Issue 4

Abstract

Objectives

Asparagine-dependent glycosylation 11-congenital disorders of glycosylation (ALG11-CDG) is a rare autosomal recessive N-glycosylation defect with multisystem involvement particularly neurological symptoms such as epilepsy and neuromotor developmental delay.

Case presentation

A 31-month-old male patient admitted to our center with complaints of axial hypotonia, drug-resistant myoclonic seizures, microcephaly and deafness. The electroencephalography (EEG) showed a burst-suppression pattern without hypsarrhythmia. Basal metabolic investigations were unremarkable. Progressive cerebral atrophy, hypomyelination and corpus callosum hypoplasia were striking features in brain MRI images taken during our follow-up. Compound heterozygous mutations of the ALG11 gene were found by whole exome sequencing (WES) analysis. It was determined that the c.476T>C mutation is a novel mutation. CDG type 1 pattern was detected with the examination of carbohydrate-deficient transferrin (CDT) by capillary zone electrophoresis.

Conclusions

In patients with a possible congenital defect of glycosylation, a screening test such as CDT analysis is suggested. To discover novel mutations in this rare disease group, expanded genetic analysis should be performed.

Keywords: ALG11-CDG; carbohydrate-deficient transferrin; epileptic encephalopathy

Corresponding author: Ayşenur Engin Erdal, Department of Pediatric Metabolic Diseases, Children’s Hospital, Ankara City Hospital, Çankaya, Ankara, Türkiye, Phone: +9005362786887, E-mail: erdalaysenur88@gmail.com

Acknowledgments

We would like to thank the Departments of Medical Genetics at Ankara City Hospital and the Department of Pediatric Metabolic Diseases Laboratory at Gazi University.

Research funding: None declared.
Author contributions: Each author has agreed to be responsible for the complete manuscript’s content and has given their approval for submission.
Competing interests: Authors state no conflict of interest.
Informed consent: In this case report, verbal informed consent was obtained from the patient’s family.
Ethical approval: The case study was designated exempt from evaluation by the regional Institutional Review Board.

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Received: 2022-09-23

Accepted: 2023-01-29

Published Online: 2023-02-28

Published in Print: 2023-04-25

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https://doi.org/10.1515/jpem-2022-0480

Keywords for this article

ALG11-CDG; carbohydrate-deficient transferrin; epileptic encephalopathy