Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.

ABSTRACT:

Purpose

The cytosolic enzyme N-glycanase 1, encoded by NGLY1, catalyzes cleavage of the β-aspartyl glycosylamine bond of N-linked glycoproteins, releasing intact N-glycans from proteins bound for degradation. In this study, we describe the clinical spectrum of NGLY1 deficiency (NGLY1-CDDG).

Methods

Prospective natural history protocol.

Results

In 12 individuals ages 2 to 21 years with confirmed, biallelic, pathogenic NGLY1 mutations, we identified previously unreported clinical features, including optic atrophy and retinal pigmentary changes/cone dystrophy, delayed bone age, joint hypermobility, and lower than predicted resting energy expenditure. Novel laboratory findings include low cerebral spinal fluid (CSF) total protein and albumin and unusually high antibody ti

SUBMITTER: Lam C 

PROVIDER: S-EPMC7477955 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature