Deficiency of N-glycanase 1

Title

Other Names:

Congenital disorder of deglycosylation;CDDG; Congenital disorder of glycosylation type Iv; CDG1V

Summary Summary

Deficiency of N-glycanase 1 (NGLY1 deficiency) is a complex neurological syndrome in which there is a deficiency of an enzyme known as N-glycanase 1 (NGLY1). This enzyme normally helps the body remove proteins that are not functioning properly. The typical features of NGLY1 deficiency include abnormal tear production, a movement disorder (choreoathetosis), and liver disease. Additional features may include developmental delay, hypotonia (weak muscle tone), peripheral neuropathy , EEG abnormalities, and a small head size (microcephaly). The condition is caused by mutations in the N-glycanase 1 gene (NGLY1 gene) and is inherited in an autosomal recessive manner.^[1]^[2]

Last updated: 9/9/2015

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Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

CDG CARE
PO Box 38832
Colorado Springs, CO 80937
Toll-free: (866) 295-7910
E-mail: info@cdgcare.com
Website: http://cdgcare.com/
Grace Science Foundation
Website: https://gracescience.org/
Contact form: https://gracescience.org/contact/

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.

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References References

Enns, Gregory, et al.. Mutations in NGLY1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation (ERAD) Pathway. October, 2014; 16 (10):751-758. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243708/. Accessed 9/9/2015.
CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG. Online Mendelian Inheritance in Man (OMIM) # 615273. June 9, 2015; http://omim.org/entry/615273. Accessed 9/9/2015.

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