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Article

Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In).

Journal of inherited metabolic disease - 1 Dec 2009

Clayton P T, Grunewald S

Abstract excerpt

Very recently, Haeuptle and colleagues described a new glycosylation defect due to RFT1 deficiency (CDG In). Accumulation of intracellular DolPP-GlcNAc(2)Man(5) with absence of cytosolic GlcNAc(2)Man(5) resembled the profile of a yeast mutant deficient in RFT1, a protein that is thought to have a role as a flippase. This is the first detailed description of the clinical phenotype of this patient. It was a severe...

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Source

Identifiers

PMID: 19267216
DOI: 10.1007/s10545-009-1108-x

Genes

RFT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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