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NGLY1 Deficiency - Video

The animated videos in NORD’s Rare Disease Video Library provide brief introductions to rare disease topics for patients, caregivers, students, professionals and the public. NORD collaborates with medical experts, patient organizations, videographers and Osmosis to develop the videos, which are made possible by individual donations, educational grants and corporate sponsorships. NORD is solely responsible for the content.


General Discussion

NGLY1 deficiency is a rare disorder that can affect multiple systems of the body. Affected individuals may have delays in reaching developmental milestones, intellectual disability, movement disorders, seizures, liver disease, and an inability to produce tears when they cry (alacrima), or they may produce tears very infrequently. The specific symptoms and severity of this disorder can vary dramatically among affected individuals. Additional symptoms can develop in some children. NGLY1 deficiency is caused by a disease causing (pathogenic) variant (mutation) in the NGLY1 gene. This variant is inherited in an autosomal recessive pattern. As of April of 2021, fewer than 100 individuals with NGLY1 deficiency have been identified. It is possible that only the most severely affected children have been diagnosed and that descriptions of this disorder reflect these severely affected individuals. This happens because more severely affected children are more likely to be referred to specialists, receive genetic testing, and receive a diagnosis. Some researchers believe that affected individuals with milder forms of NGLY1 deficiency most likely exist.

Synonyms of NGLY1 Deficiency

  • NGLY1-related congenital disorder of deglycosylation
  • NGLY1-CDDG
  • NGLY1-related disorder

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