Dataset Information

Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports.

ABSTRACT:

Background

Mannosyl-oligosaccharide glucosidase (MOGS) deficiency is an extremely rare type of congenital disorder of glycosylation (CDG), with only 12 reported cases. Its clinical, genetic, and glycomic features are still expanding. Our aim is to update the novel clinical and glycosylation features of 2 previously reported patients with MOGS-CDG.

Case summary

We collected comprehensive clinical information, and conducted the immunoglobulin G1 glycosylation assay using nano-electrospray ionization source quadruple time-of-flight mass spectrometry. Novel dysmorphic features included an enlarged tongue, forwardly rotated earlobes, a birth mark, overlapped toes, and abnormal fat distribution. Novel imaging findings included pericardial effusion, a deep interarytenoid groove, mild congenital subglottic stenosis, and laryngomalacia. Novel laboratory findings included peripheral leukocytosis with neutrophil predominance, elevated C-reactive protein and creatine kinase, dyslipidemia, coagulopathy, complement 3 and complement 4 deficiencies, decreased proportions of T lymphocytes and natural killer cells, and increased serum interleukin 6. Glycosylation studies showed a significant increase of hypermannosylated glycopeptides (Glc3Man7GlcNAc2/N2H10 and Man5GlcNAc2/N2H5) and hypersialylated glycopeptides. A compensatory glycosylation pathway leading to an increase in Man5GlcNAc2/N2H5 was indicated with the glycosylation profile.

Conclusion

We confirmed abnormal glycomics in 1 patient, expanding the clinical and glycomic spectrum of MOGS-CDG. We also postulated a compensatory glycosylation pathway, leading to a possible serum biomarker for future diagnosis.

SUBMITTER: Abuduxikuer K

PROVIDER: S-EPMC9353930 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature

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Publications

Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports.

Abuduxikuer Kuerbanjiang K Wang Lei L Zou Lin L Cao Cui-Yan CY Yu Long L Guo Hong-Mei HM Liang Xin-Miao XM Wang Jian-She JS Chen Li L

World journal of clinical cases 20220701 21

<h4>Background</h4>Mannosyl-oligosaccharide glucosidase (MOGS) deficiency is an extremely rare type of congenital disorder of glycosylation (CDG), with only 12 reported cases. Its clinical, genetic, and glycomic features are still expanding. Our aim is to update the novel clinical and glycosylation features of 2 previously reported patients with MOGS-CDG.<h4>Case summary</h4>We collected comprehensive clinical information, and conducted the immunoglobulin G1 glycosylation assay using nano-electr ...[more]

PMID: 36158009

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Dataset Information

Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports.

Background

Case summary

Conclusion

Publications

Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports.

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