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Usefulness of urinary glycosaminoglycans assay for a mucopolysaccharidosis‐specific screening
Author(s) -
Sabir EsSaid,
Lafhal Karima,
Ezoubeiri Aicha,
Harkati Imane,
Sbyea Safia,
AldámizEchevarría Luis,
Andrade Fernando,
Ait Babram Mohammed,
Maoulainine Fadl Mrabih Rabou,
Draiss Ghizlane,
Rada Noureddine,
Bouskraoui Mohammed,
Karim Abdallah,
Fdil Naima
Publication year - 2020
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.14278
Subject(s) - medicine , newborn screening , mucopolysaccharidosis , urine , urinary system , glycosaminoglycan , population , screening test , pediatrics , environmental health , anatomy
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 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 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 Our results demonstrate the usefulness of quantifying glycosaminoglycans for early screening of MPS.