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Article

A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.

American journal of human genetics - 1 Jun 2000

De Praeter CM, Gerwig G J, Bause E, Nuytinck L K, Vliegenthart J F, Breuer W, Kamerling J P, Espeel M F, Martin J J, De Paepe AM, Chan N W, Dacremont G A, Van Coster RN

Abstract excerpt

Glucosidase I is an important enzyme in N-linked glycoprotein processing, removing specifically distal alpha-1,2-linked glucose from the Glc3Man9GlcNAc2 precursor after its en bloc transfer from dolichyl diphosphate to a nascent polypeptide chain in the endoplasmic reticulum. We have identified a glucosidase I defect in a neonate with severe generalized hypotonia and dysmorphic features. The clinical course was...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 10788335
DOI: 10.1086/302948
PMCID: PMC1378052

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Source receipt: pubmed, retrieved 7 Sept 2026.

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