Phenylalanine and total galactose measurement from dried blood spotted on filter paper application to newborn screening
Keywords:
galactosaemia, phenylketonuria, neonatal screening
Abstract
Neonatal screening programs for metabolic disorders are recommended especially for phenylketonuria and congenital hypothyroidism. The present study was designed to adapt, develop and evaluate a SUMA method for total galactose (Gal) and phenilalanine (Phe) measurement on filter paper blood specimens. A single 5 mm disk with blood was deproteinized with methanolacetone and eluted with distilled water. Ten ml of the extract was transferred to one well of a ultramicroELISA plate, and the reaction solution was added to determine Phe level. The remaining extract was used for the GAL determinations. The method showed good linearity in a 0-50 mg/dl concentration range for Phe and 0-60 mg/dl for Gal. The detection limit was 0.14 mg/dl for Phe and 0.9 mg/dl for Gal. Reproducibility was assessed with filter paper blood specimens containing Gal and Phe at low, middle and high levels. Intraassay coefficients of variation were 10%, 7.5%, 6.22%, and 8.5%, 7%, 5%, respectively, whereas interassay coefficients of variation were 9.54%, 6%, 7% and 6%, 4.6%, 5,6%, respectively. In 1,000 samples from newborns, four samples of Phe and two samples of Gal showed a concentration below the treshold set for each assay. This method provides a rapid means to survey for a low incidence disease (i.e., galactosaemia: incidence, 1/30,000), in existing phenylketonuria analysis programs, where an incidence of 1/ 10,000), easily justifies the cost of mass screening.Downloads
Download data is not yet available.
How to Cite
1.
Torres E, Baloy A, Frómeta A, Fernández L. Phenylalanine and total galactose measurement from dried blood spotted on filter paper application to newborn screening. Biomed. [Internet]. 2002 Mar. 1 [cited 2024 Aug. 18];22(1):22-9. Available from: https://revistabiomedica.org/index.php/biomedica/article/view/1136
Published
2002-03-01
Issue
Section
Original articles
Article metrics | |
---|---|
Abstract views | |
Galley vies | |
PDF Views | |
HTML views | |
Other views |