NGLY1 deficiency, also known as NGLY1-related congenital disorder of deglycosylation, is a rare autosomal recessive disorder caused by mutations in the NGLY1 gene which encodes a specialized enzyme called N-glycanase that removes N-linked glycan from glycosylated proteins within the body. This evidence concerns the gene NGLY1 and Alacrimia-choreoathetosis-liver dysfunction syndrome.