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| ====== NGLY1 Deficiency ====== | ====== NGLY1 Deficiency ====== | ||
| + | * Global developmental delay | ||
| + | * Intellectual diability | ||
| + | * Hypotonia | ||
| + | * Hypo- or alacrima | ||
| + | ====Eye Findings==== | ||
| + | * Hypolacrima (83%) | ||
| + | * Incomplete or abnormal blink (73%) | ||
| + | * Optic disc abnormalities (73%) | ||
| + | * Peripapillary atrophy, cupping | ||
| + | * Corneal abnormalities typically found with dry eye | ||
| + | * punctate epithelial erosions | ||
| + | * pannus and neovascularization | ||
| + | * Conjunctival injection (60%) | ||
| + | * Strabismus (33%) | ||
| + | * Exotropia > Esotropia | ||
| + | * Restricted ocular movements | ||
| + | * Iris abnormalities | ||
| + | * Reduced pupillary reactivity (47%) | ||
| + | * Irregular iris (27%) | ||
| + | * Nystagmus- rare | ||
| + | ====Other Findings==== | ||
| + | * Increased liver transaminases | ||
| + | * Polyneuropathy | ||
| + | ====Etiology==== | ||
| + | * Autosomal Recessive | ||
| + | * Loss-of-function variants of the NGLY1 encoding N-glycanase 1 | ||
| + | * an enzyme that removes the sugar moiety from proteins | ||
| + | * cleaves N-glycans to generate deglycosylated proteins and oligosaccharides containing 1-amino-GlcNac | ||
| + | * degrades misfolded proteins in the endoplasmic reticulum | ||
| + | ====Resources==== | ||
| + | * {{ :: | ||
| + | |||
| + | {{tag> | ||