Development of a protocol for newborn screening for disorders of the galactose metabolic pathway
| Autor: | F. G. Bowling, A. R. D. Brown |
|---|---|
| Rok vydání: | 1985 |
| Předmět: |
Galactosemias
medicine.medical_specialty Population Physiology Biology UDPglucose 4-Epimerase Internal medicine Genetics medicine Humans Mass Screening UTP-Hexose-1-Phosphate Uridylyltransferase Transferase Prospective Studies education Prospective cohort study Genetics (clinical) Retrospective Studies Newborn screening education.field_of_study Red Cell Clinical Laboratory Techniques Galactosemia Australia Infant Newborn Retrospective cohort study Clinical Enzyme Tests medicine.disease Nucleotidyltransferases Endocrinology Chromatography Thin Layer False positive rate |
| Zdroj: | Journal of Inherited Metabolic Disease. 9:99-104 |
| ISSN: | 1573-2665 0141-8955 |
| DOI: | 10.1007/bf01813911 |
| Popis: | The protocol evaluated in this paper employs an enzymatic assay of galactose metabolites, thin layer chromatography, and an assay of galactose-1-phosphate uridyl transferase on a single sample of blood collected routinely for newborn screening. Its effectiveness was tested by a retrospective study of known galactosaemic blood samples, and also by a prospective study of 207 000 newborn samples from which 6 infants with severe transferase deficient galactosaemia and 2 infants with red cell epimerase deficiency were identified. The detection rate for severe transferase deficiency in the newborn population was 1:35 000. Advantages include low false positive rate, definitive diagnosis within 6 hours of sample receipt, and the use of technically simple and robust procedures. This protocol overcomes the difficulties encountered with previously described procedures. |
| Databáze: | OpenAIRE |
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