Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient

Abstract

NGLY1 deficiency is a rare congenital disorder of deglycosylation with a unique constellation of symptoms that include hypo- or alacrima, movement disorder, epilepsy, and severe intellectual disability (OMIM #615273). Here we report a patient with NGLY1 deficiency whose clinical presentation lacks many of the features associated with the disease and has a much milder intellectual disability than had been previously reported, expanding the phenotypic spectrum.

Keywords: CDG; Congenital disorder of glycosylation; NGLY1; NGLY1 deficiency.