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Unexplained death in patients with NGLY1 mutations may be explained by adrenal insufficiency

1 Feb 2019

Abstract excerpt

Homozygous mutations in NGLY1 were recently found to cause a condition characterized by a complex neurological syndrome, hypo- or alacrimia, and elevated liver transaminases. For yet unknown reasons, mortality is increased in patients with this condition. NGLY1 encodes the cytosolic enzyme N-glycanase 1, which is responsible for the deglycosylation of misfolded N-glycosylated proteins. Disruption of this process...

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PMID: 30740912
DOI: 10.14814/phy2.13979

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