Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects.

ABSTRACT:

Context

TMEM165 deficiency is a severe multisystem disease that manifests with metabolic, endocrine, and skeletal involvement. It leads to one type of congenital disorders of glycosylation (CDG), a rapidly growing group of inherited diseases in which the glycosylation process is altered. Patients have decreased galactosylation by serum glycan analysis. There are >100 CDGs, but only specific types are treatable.

Objective

Galactose has been shown to be beneficial in other CDG types with abnormal galactosylation. The aim of this study was to characterize the effects of galactose supplementation on Golgi glycosylation in TMEM165-depleted HEK293 cells, as well as in 2 patients with TMEM165-CDG and in their cultured skin fibroblast cells.

Design and setting

Glycosylation w

SUBMITTER: Morelle W 

PROVIDER: S-EPMC6283449 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature