Screening of newborn infants for galactosemia in British Columbia

With simple microbiologic and fluorescent tests, we detected two cases of classic galactosemia, confirmed by specific enzyme assays, in the first 25 000 newborn infants in British Columbia screened for this disorder. The results were equivocally abnormal for another 31 infants, and a second blood sa...

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Bibliographic Details
Published in:Canadian Medical Association journal 1985-05, Vol.132 (9), p.1033-1035
Main Authors: Kirby, L. T, Norman, M. G, Applegarth, D. A, Hardwick, D. F
Format: Article
Language:English
Subjects:
British Columbia
Clinical and Community Studies
Galactosemias - blood
Galactosemias - epidemiology
Humans
Infant, Newborn
Mass Screening - methods
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Summary:With simple microbiologic and fluorescent tests, we detected two cases of classic galactosemia, confirmed by specific enzyme assays, in the first 25 000 newborn infants in British Columbia screened for this disorder. The results were equivocally abnormal for another 31 infants, and a second blood sample was requested from each, either for repeat screening or for enzyme assays. The two infants with galactosemia were in hospital with an undiagnosed acute illness and had only a trace of non-glucose reducing substances in the urine when the screening tests were done. Screening for galactosemia fits well with our established programs of screening for phenylketonuria and hypothyroidism and costs less than $1 per infant tested.
ISSN:0008-4409