What is NGLY1?
N-glycanase deficiency, or NGLY1 deficiency, is an extremely rare genetic disorder in which both copies of a patient’s NGLY1 gene contain mutations. It is a progressive condition, and no cure is currently available.
This gene holds the information the body needs to synthesize the enzyme N-glycanase. As a result of their genetic mutations, NGLY1 patients produce little or no N-glycanase.
N-glycanase is responsible for a certain “recycling” processes in the cell called de-glycosylation, which means cutting off sugars from proteins. NGLY1 patients have an impaired capacity to carry out this important process.
It falls within the family of Congenital Disorders of Glycosylation (CDG), being the first known Congenital Disorder of Deglycosylation (CDDG).