Backgroung In this study, we propose a high-throughput procedure for the simultaneous determination of glucosamine and galactosamine generated from urinary glycosaminoglycans (GAGs) applied to healthy newborns of 2-3 days of age. Methods The GAGs of urine of 155 healthy newborns having 2-3 days of age were rapidly treated with HCl after precipitation with ethanol. Generated hexosamines were separated by HPLC equipped with a fluorimetric detector after derivatization with a fluorescence molecule. Results Both hexosamines, galactosamine (GalN) and glucosamine (GlcN) were rapidly and clearly separated and quantified obtaining a GalN/GlcN ratio of 0.74 with a CV% of ~29%. By comparing these new data obtained on the urine of newborns of 2-3 days of age with those previously published [Coppa GV et al. Anal. Biochem. 411, 32, 2011], we obtained significant differences of GalN/GlcN ratio in patients affected by MPS I, II, III and VI. Subjects with MPS IV were found borderline and further studies are necessary. No significant differences were observed with 83 heathy subjects of ~4 years old. Discussion Contrary to other analytical approaches, the present procedure is able to measure total abnormal amounts of urinary GAGs, high-molecular mass and related fragments, as well as specific hexosamines belonging to a group of GAGs. We propose this assay for possible application in MPS early diagnosis. In fact, due to the high-throughput nature of this approach and to the equipment commonly available in laboratories, this method may be suitable for newborn screening in preventive public health programs for early detection of MPS disorders, diagnosis and treatment.

High-throughput determination of urinary hexosamines in newborns of 2-3 days of age: application for the early diagnosis of mucopolysaccharidoses / Volpi, Nicola; Maccari, Francesca; Galeotti, Fabio; D., Concolino; R. L., Marchesiello; T., Galeazzi. - (2016). ((Intervento presentato al convegno SSIEM 2016, Società Italiana Per lo Studio delle Malattie Metaboliche tenutosi a Roma nel 6-9 Settembre 2016.

High-throughput determination of urinary hexosamines in newborns of 2-3 days of age: application for the early diagnosis of mucopolysaccharidoses

Nicola Volpi
;
Francesca Maccari;Fabio Galeotti;
2016

Abstract

Backgroung In this study, we propose a high-throughput procedure for the simultaneous determination of glucosamine and galactosamine generated from urinary glycosaminoglycans (GAGs) applied to healthy newborns of 2-3 days of age. Methods The GAGs of urine of 155 healthy newborns having 2-3 days of age were rapidly treated with HCl after precipitation with ethanol. Generated hexosamines were separated by HPLC equipped with a fluorimetric detector after derivatization with a fluorescence molecule. Results Both hexosamines, galactosamine (GalN) and glucosamine (GlcN) were rapidly and clearly separated and quantified obtaining a GalN/GlcN ratio of 0.74 with a CV% of ~29%. By comparing these new data obtained on the urine of newborns of 2-3 days of age with those previously published [Coppa GV et al. Anal. Biochem. 411, 32, 2011], we obtained significant differences of GalN/GlcN ratio in patients affected by MPS I, II, III and VI. Subjects with MPS IV were found borderline and further studies are necessary. No significant differences were observed with 83 heathy subjects of ~4 years old. Discussion Contrary to other analytical approaches, the present procedure is able to measure total abnormal amounts of urinary GAGs, high-molecular mass and related fragments, as well as specific hexosamines belonging to a group of GAGs. We propose this assay for possible application in MPS early diagnosis. In fact, due to the high-throughput nature of this approach and to the equipment commonly available in laboratories, this method may be suitable for newborn screening in preventive public health programs for early detection of MPS disorders, diagnosis and treatment.
SSIEM 2016, Società Italiana Per lo Studio delle Malattie Metaboliche
Roma
6-9 Settembre 2016
Volpi, Nicola; Maccari, Francesca; Galeotti, Fabio; D., Concolino; R. L., Marchesiello; T., Galeazzi
High-throughput determination of urinary hexosamines in newborns of 2-3 days of age: application for the early diagnosis of mucopolysaccharidoses / Volpi, Nicola; Maccari, Francesca; Galeotti, Fabio; D., Concolino; R. L., Marchesiello; T., Galeazzi. - (2016). ((Intervento presentato al convegno SSIEM 2016, Società Italiana Per lo Studio delle Malattie Metaboliche tenutosi a Roma nel 6-9 Settembre 2016.
File in questo prodotto:
File Dimensione Formato  
Abstract SSIEM 2016 Hexs GAGs Urine Neonati - Finale.docx

accesso aperto

Tipologia: Abstract
Dimensione 16.55 kB
Formato Microsoft Word XML
16.55 kB Microsoft Word XML Visualizza/Apri
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11380/1175836
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus ND
  • ???jsp.display-item.citation.isi??? ND
social impact