Mutations in the NGLY1 gene in humans have been associated with a rare early-onset inherited disorder known as NGLY1 deficiency (also referred to as NGLY1-related congenital disorder of deglycosylation, NGLY1-CDDG, OMIM#615273). The gene discussed is NGLY1; the disease is Alacrimia-choreoathetosis-liver dysfunction syndrome.