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.

NGLY1 is a recently-discovered and little-understood condition, and there is much research left to be done.

Japanese researcher Tadashi Suzuki first investigated the biochemical activities of N-glycanase in 1993, but it would take another 12 years for researchers to examine its implications for human health.

When researchers found NGLY1 mutations in Bertrand Might in 2012, they suspected those mutations were responsible for the then-four-year-old’s symptoms.

But in order to be sure, they needed to find a second patient that shared both symptoms and mutations.

A social media campaign soon led to the discovery of many more such patients. As of February 2018, we are aware of 63 patients worldwide, from a variety of geographic and ethnic backgrounds, with their ages ranging from a few months to 22 years. It is crucial for this number to grow, as the community can provide important information and support to every new family, as well as gain more insights into the disease with every new patient.