Selective screening for neonatal galactosemia : an alternative approach

No universal consensus exists for population-based neonatal screening for galactosemia. In our institution, selective screening for classical galactosemia is carried out on infants under 2 wk of age and those with symptoms suggestive of this disorder. Eighteen cases were diagnosed from 25,099 tests...

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Bibliographic Details
Published in:Acta pædiatrica (Oslo) 2001-08, Vol.90 (8), p.948-949
Main Authors: SHAH, V, FRIEDMAN, S, MOORE, A. M, PLATT, B. A, FEIGENBAUM, A. S. J
Format: Article
Language:English
Subjects:
Biological and medical sciences
Biomarkers - analysis
Canada - epidemiology
Carbohydrates (enzymatic deficiencies). Glycogenosis
Errors of metabolism
Female
Galactosemias - diagnosis
Galactosemias - epidemiology
Humans
Infant, Newborn
Male
Medical sciences
Metabolic diseases
Neonatal Screening - methods
Retrospective Studies
UTP-Hexose-1-Phosphate Uridylyltransferase - analysis
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Summary:No universal consensus exists for population-based neonatal screening for galactosemia. In our institution, selective screening for classical galactosemia is carried out on infants under 2 wk of age and those with symptoms suggestive of this disorder. Eighteen cases were diagnosed from 25,099 tests done; 17 were symptomatic at the time of diagnosis. We suggest that improved clinical vigilance and selective screening would identify most infants with severe galactosemia as early as a population-based program.
ISSN:0803-5253
DOI:10.1080/08035250152509726