Introduction
NGLY1 Deficiency is a very rare genetic disorder caused by biallelic pathogenic variants in N-glycanase 1 enzyme.
Symptoms
The typical phenotype is characterized by intellectual disability, liver malfunctioning, muscular hypotonia, involuntary movements, and decreased or absent tear production.
Cause
NGLY1 deficiency is caused by bi-allelic variants in NGLY1 which catalyzes protein deglycosylation.
Prevalence
Under 100 individuals worldwide
Links
https://www.ngly1.org