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Article

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

The Journal of clinical endocrinology and metabolism - 1 Apr 2017

Morelle Willy, Potelle Sven, Witters Peter, Wong Sunnie, Climer Leslie, Lupashin Vladimir, Matthijs Gert, Gadomski Therese, Jaeken Jaak, Cassiman David, Morava Eva, Foulquier François

Abstract excerpt

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....

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Identifiers

PMID: 28323990
DOI: 10.1210/jc.2016-3443
PMCID: PMC6283449

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