Table 4.

Treatment of Manifestations in Individuals with NGLY1-CDDG

Manifestation/ConcernTreatmentConsiderations/Other
Hypolacrima Lubricating eye drops &/or bland ointments
Hearing loss Standard treatmentSee Hereditary Hearing Loss and Deafness Overview.
Sleep apnea Routine management
Oromotor deficits leading to feeding problems Feeding therapy; supplemental tube feeding if indicatedReferral to gastroenterologist
Constipation Standard managementReferral to gastroenterologist if refractory to typical medical management
Abnormal hematologic &/or gastroenterologic labs Follow up w/hematologist & gastroenterologist
Scoliosis & osteopenia Routine management
Hypohydrosis Adequate access to water & cool environment (AC, wet T-shirt, &/or spray bottle of water)Cooling vests may be helpful in hot climates.
Seizures Standard treatmentReferral to neurologist for those w/refractory or severe seizures
Vitamin D deficiency Supplemental vitamin D
Any condition requiring surgical intervention Surgery best performed in centers w/surgeons & anesthesiologists experienced in care of those w/metabolic disorders & special needs

AC = air conditioning

From: NGLY1-Related Congenital Disorder of Deglycosylation

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.