Osmosis video - NGLY1 deficiency (NORD)

N-glycanase 1 deficiency, also known as NGLY1 deficiency, is a rare genetic disorder characterized by a deficiency of the enzyme N-glycanase 1 (NGLY1). NGLY1 is involved in the breakdown of complex sugars known as N-glycans attached to proteins throughout the body.

NGLY1 deficiency results from a mutation in the NGLY1 gene that decreases NGLY1 production. Symptoms include developmental delays, intellectual disability, seizures, delayed developmental milestones, as well as problems with movement and coordination. They may also have abnormalities of the eyes, including cataracts and problems with eye movement.