Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency
| Autor: | Patricia L. Hall, Kimiyo Raymond, William A. Gahl, Carlos Ferreira, Lynne A. Wolfe, Hudson H. Freeze, Christina Lam, Gerard T. Berry, Kim K. Nickander, John J. Alexander, Caroline M. Watson, Jon D. Sharer, Ghazia Asif |
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| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Analyte Adolescent Aspartylglucosaminuria Endocrinology Diabetes and Metabolism Population Oligosaccharides Urine Tandem mass spectrometry Biochemistry Young Adult 03 medical and health sciences Congenital Disorders of Glycosylation Endocrinology Tandem Mass Spectrometry Genetics medicine Humans Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase Child education NGLY1 Molecular Biology Exome chemistry.chemical_classification education.field_of_study business.industry Infant Oligosaccharide medicine.disease 030104 developmental biology chemistry Child Preschool Spectrometry Mass Matrix-Assisted Laser Desorption-Ionization Immunology Female business Biomarkers |
| Zdroj: | Molecular Genetics and Metabolism. 124:82-86 |
| ISSN: | 1096-7192 |
| DOI: | 10.1016/j.ymgme.2018.03.002 |
| Popis: | N-glycanase deficiency (NGLY1 deficiency, NGLY1-CDDG), the first autosomal recessive congenital disorder of N-linked deglycosylation (CDDG), is caused by pathogenic variants in NGLY1. The majority of affected individuals have been identified using exome or genome sequencing. To date, no reliable, clinically available biomarkers have been identified. Urine oligosaccharide analysis was included as part of a routine evaluation for possible biomarkers in patients with confirmed NGLY1-CDDG. During the qualitative review of oligosaccharide profiles by an experienced laboratory director an abnormal analyte with a proposed structure of Neu5Ac1Hex1GlcNAc1-Asn was identified in NGLY1-CDDG patient urine samples. The same species has been observed in profiles from individuals affected with aspartylglucosaminuria, although the complete spectra are not identical. Additional studies using tandem mass spectrometry confirmed the analyte's structure. In addition to the known NGLY1-CDDG patients identified by this analysis, a single case was identified in a population referred for clinical testing who subsequently had a diagnosis of NGLY1-CDDG confirmed by molecular testing. Urine oligosaccharide screening by MALDI-TOF MS can identify individuals with NGLY1-CDDG. In addition, this potential biomarker might also be used to monitor the effectiveness of therapeutic options as they become available. |
| Databáze: | OpenAIRE |
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