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.