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NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.

NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.

Authors :
Dabaj, Ivana
Sudrié-Arnaud, Bénédicte
Lecoquierre, François
Raymond, Kimiyo
Ducatez, Franklin
Guerrot, Anne-Marie
Snanoudj, Sarah
Coutant, Sophie
Saugier-Veber, Pascale
Marret, Stéphane
Nicolas, Gaël
Tebani, Abdellah
Bekri, Soumeya
Galindo, Carmen Espinós; Máximo Ibo
Rodrigo, Regina
Source :
Life (2075-1729); Mar2021, Vol. 11 Issue 3, p187-187, 1p
Publication Year :
2021

Abstract

NGLY1 deficiency is the first recognized autosomal recessive disorder of N-linked deglycosylation (NGLY1-CDDG). This severe multisystemic disease is still poorly known and, to date, most cases have been diagnosed through whole exome or genome sequencing. The aim of this study is to provide the clinical, biochemical and molecular description of the first NGLY1-CDDG patient from France along with a literature review. The index case presented with developmental delay, acquired microcephaly, hypotonia, alacrimia, feeding difficulty, and dysmorphic features. Given the complex clinical picture and the multisystemic involvement, a trio-based exome sequencing was conducted and urine oligosaccharides were assessed using mass spectrometry. The exome sequencing revealed a novel variant in the NGLY1 gene in a homozygous state. NGLY1 deficiency was confirmed by the identification of the Neu5Ac1Hex1GlcNAc1-Asn oligosaccharide in the urine of the patient. Literature review revealed the association of some key clinical and biological features such as global developmental delay—hypertransaminasemia, movement disorders, feeding difficulties and alacrima/hypolacrima. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
20751729
Volume :
11
Issue :
3
Database :
Complementary Index
Journal :
Life (2075-1729)
Publication Type :
Academic Journal
Accession number :
149454911
Full Text :
https://doi.org/10.3390/life11030187