Usefulness of urinary glycosaminoglycans assay for a mucopolysaccharidosis-specific screening.
Adolescent
Adult
Age Factors
Child
Child, Preschool
Early Diagnosis
Female
Glycosaminoglycans
/ urine
Humans
Infant
Infant, Newborn
Male
Mass Screening
/ methods
Methylene Blue
/ analogs & derivatives
Morocco
Mucopolysaccharidoses
/ diagnosis
Neonatal Screening
/ methods
Reference Values
Spectrophotometry
Young Adult
1,9-dimethylmethylene blue
glycosaminoglycan
mucopolysaccharidosis
reference range
screening
stability
Journal
Pediatrics international : official journal of the Japan Pediatric Society
ISSN: 1442-200X
Titre abrégé: Pediatr Int
Pays: Australia
ID NLM: 100886002
Informations de publication
Date de publication:
Sep 2020
Sep 2020
Historique:
received:
28
01
2020
revised:
17
03
2020
accepted:
22
04
2020
pubmed:
2
5
2020
medline:
19
5
2021
entrez:
2
5
2020
Statut:
ppublish
Résumé
Mucopolysaccharidoses (MPS), a group of inherited metabolic disorders characterized by the accumulation of glycosaminoglycans, can be diagnosed early through newborn screening programs. Establishing newborn screening in Morocco is a challenging task for multiple economic and social reasons. Screening in a Moroccan population using 1,9-dimethylmethylene blue urinary glycosaminoglycan (GAG) assays may allow for an earlier diagnosis of MPS. We studied the feasibility of implementing screening in Moroccan children as an alternative to national newborn screening. We determined the reference ranges for GAGs in the Moroccan population, their stability during transport, the effectiveness of this test as a screening procedure for MPS in patients, and its use as a screening test for MPS in the Imssouane region, where the rate of consanguineous marriage is 38%. Using dimethylmethylene blue assays, urine samples of 47 MPS patients were analyzed, together with urine samples from healthy controls (n = 368, age ranging from 1 month to 25 years), and from Imssouane region children (n = 350, age ranging from 6 months to 24 month). Precision, linearity, recovery, limits, and stability were tested. Urinary GAGs reference values are age and ethnicity dependent. The validation parameters established displayed great precision and accuracy leading to recoveries according to internationally accepted values for bioanalytical methods. Urinary GAGs were stable for a maximum of 7 weeks at 40 °C. Screening of Imssouane children resulted in the detection of a 6-month-old child, diagnosed with MPS I. Our results demonstrate the usefulness of quantifying glycosaminoglycans for early screening of MPS.
Sections du résumé
BACKGROUND
BACKGROUND
Mucopolysaccharidoses (MPS), a group of inherited metabolic disorders characterized by the accumulation of glycosaminoglycans, can be diagnosed early through newborn screening programs. Establishing newborn screening in Morocco is a challenging task for multiple economic and social reasons. Screening in a Moroccan population using 1,9-dimethylmethylene blue urinary glycosaminoglycan (GAG) assays may allow for an earlier diagnosis of MPS. We studied the feasibility of implementing screening in Moroccan children as an alternative to national newborn screening. We determined the reference ranges for GAGs in the Moroccan population, their stability during transport, the effectiveness of this test as a screening procedure for MPS in patients, and its use as a screening test for MPS in the Imssouane region, where the rate of consanguineous marriage is 38%.
METHODS
METHODS
Using dimethylmethylene blue assays, urine samples of 47 MPS patients were analyzed, together with urine samples from healthy controls (n = 368, age ranging from 1 month to 25 years), and from Imssouane region children (n = 350, age ranging from 6 months to 24 month). Precision, linearity, recovery, limits, and stability were tested.
RESULTS
RESULTS
Urinary GAGs reference values are age and ethnicity dependent. The validation parameters established displayed great precision and accuracy leading to recoveries according to internationally accepted values for bioanalytical methods. Urinary GAGs were stable for a maximum of 7 weeks at 40 °C. Screening of Imssouane children resulted in the detection of a 6-month-old child, diagnosed with MPS I.
CONCLUSIONS
CONCLUSIONS
Our results demonstrate the usefulness of quantifying glycosaminoglycans for early screening of MPS.
Substances chimiques
Glycosaminoglycans
0
dimethylmethylene blue
0
Methylene Blue
T42P99266K
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1077-1085Informations de copyright
© 2020 Japan Pediatric Society.
Références
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