treatment options for NGLY1 deficiency are in the pre-clinical stages. These include enzyme replacement therapy, as well as ENGase inhibitors. Efforts are also underway to find small-molecule stabilizers for the mutant NGLY1 protein variants as a potential means to overcome the N-glycanase deficiency. Epidemiology Forty-seven patients with confirmed NGLY1 deficiency have been reported in the medical literature. Patient advocacy groups have reported approximately 100 patients have been identified. Currently, the majority of individuals reported with NGLY1 deficiency are of northern European descent, however this likely reflects an ascertainment bias in these early stages of the disorder. Affected individuals with African and Hispanic backgrounds have been identified. History The first cases of NGLY1 deficiency were described in 2012. NGLY1 deficiency has received a large amount of attention, despite its rarity, due to the children of two media-savvy families being afflicted. The Wilseys, descendants of Dede Wilsey, founded the Grace Science Foundation in honor of their daughter, while Matt Might and his wife founded the Bertrand Might Research Fund. These foundations have contributed millions of dollars to research efforts. See also Glycobiology References External links Genetic diseases and disorders Rare diseases Autosomal recessive disorders Congenital disorders of glycosylation