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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 &gt;100 CDGs, but only specific types are treatable.

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