NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.

ABSTRACT:

Objectives

Together with the lysosomal storage diseases, NGLY1 deficiency is a congenital disorder of deglycosylation (NGLY1-CDDG). Since the first report in 2012, 26 patients have been described. All but one were diagnosed by exome or genome sequencing; the remaining one was identified by finding an increased concentration of an urinary marker.The aim of this study was to describe the clinical, biochemical, and molecular features of the first Polish patient diagnosed with NGLY1-CDDG, to provide an overview of the literature and to propose a diagnostic algorithm.

Results

A Polish patient presented with global developmental delay, hyperkinetic movement disorder, stagnation of head growth, hypolacrimia, elevated serum transaminases, and hypolipidemia in infancy. Whole exome se

SUBMITTER: Lipinski P 

PROVIDER: S-EPMC7012742 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature