What is NGLY1 deficiency?
NGLY1 deficiency is an extremely rare disorder characterized by a variety of different symptoms that can affect multiple organ systems of the body. Three characteristic findings of this disorder are varying degrees of intellectual disability, movement disorders, and a condition called alacrima. Movement disorders are any disorder in which there are problems with the speed, quality, or ease of making voluntary movements. Alacrima is a condition in which infants or children cannot produce tears when they cry, or they can produce tears but only infrequently. This can cause other issues with the eyes. Every person with this disorder does not necessarily have the same symptoms or features. There can be people who are mildly affected and others who have more severe health problems. NGLY1 deficiency is an autosomal recessive disorder meaning that for a person to have the disorder, they have to inherit two changed copies, or two variants, of a specific gene called NGLY1. There are only about 60 people known to have this disorder, so researchers and physicians are still learning about NGLY1 deficiency.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/615273-congenital-disorder-of-deglycosylation-6032/overview/65724 • DATE UPDATED: 2018-06-08
Lam C, Wolfe L, Need A, Shashi V, Enns G. NGLY1-Related Congenital Disorder of Deglycosylation. GeneReviews website. Accessed April 12, 2018. https://www.ncbi.nlm.nih.gov/books/NBK481554/
NGLY1-congenital disorder of deglycosylation. Genetics Home Reference website. Accessed April 16, 2018. https://ghr.nlm.nih.gov/condition/ngly1-congenital-disorder-of-deglycosylation
NGLY1.org. (2018). About NGLY1 Deficiency: A handbook for patients, families and healthcare providers. Salt Lake City, UT. NGLY1.org