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Mass screening newborns for mucopolysaccharidoses
Author(s) -
Sabater J.,
Villalba M.,
Maya A.
Publication year - 1973
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1973.tb01152.x
Subject(s) - urine , medicine , glycosaminoglycan , urinary system , screening test , physiology , mucopolysaccharidosis , pediatrics , anatomy
A modification of Berry's test for the screening of mucopolysaccharides in urine, applicable with urine‐impregnated filter paper, is presented. So far, 15,000 newborns have been screened with this method. Of these, 103 gave a positive test result at 20 days of age. At three months, 78 new samples were sent and of these, five continued to give a positive test. These five cam were followed‐up for one year, and their study was completed by measuring thc activities of betagalactosidase, alfa‐fucosidase and arylsulphatasc in urine. On the basis of the results, we re commend the systematic screening of large numbers of newborns in order to establish when abnormal urinary elimination of mucopolysaccharides begins in affected babies; this fact is of unquestionable practical importance for the clarification of the many unknown points that exist with respect to the genetical, biochemical and physiological aspects of this group of diseases.