Long Description: A flowchart is shown. An arrow points from an oval reading “Absent or decreased GALT via NBS” to a shaded oval reading “Quantitative RBC GALT assay*”. From that oval four arrows emerge. The first points to an oval reading “GALT < 1%”. From that oval two arrows emerge. The first leads to an oval reading “Classical galactosemia (potentially life-threatening)”. From that oval an arrow points to a shaded oval reading “GALT genotype”, from which an arrow points to an oval reading “a Q188R/Q188R; Other; Severe/Severe”. The second arrow from the “GALT < 1%” oval leads to an oval reading “Variant (Clinical) Galactosemia”. From that oval an arrow points to a shaded oval reading “GALT genotype”, from which an arrow points to an oval reading “b S135L/S135L; Variant/Variant; Severe/Variant”. Double daggers appear before “Variant/Variant” and “Severe/Variant”. The second arrow from the “Qualitative RBC GALT assay*” oval points to an oval reading “GALT = 1 – 10%”. From that oval an arrow points to an oval reading “Variant (Clinical) Galactosemia”, from which an arrow points to a shaded oval reading “GALT genotype”. From that oval an arrow points to an oval reading “Q188R/Variant; Other; Variant/Variant”. A double dagger appears before “Variant/Variant”. The third arrow from the “Qualitative RBC GALT assay*” oval points to an oval reading “GALT >10-75%”. From that oval an arrow points to an oval reading “Variant (benign) Galactosemia or carrier. From that oval an arrow points to a shaded oval reading “GALT genotype”, from which an arrow points to an oval reading “Q188R/N314D; Severe/N314D; Severe/Variant; N314D/N314D; Variant/Variant; Q188R/Normal; Severe/Normal; N314D/Normal; Variant/Normal”. Daggers appear before “Variant/Variant” and “Variant/Normal”. The fourth arrow from the “Qualitative RBC GALT assay*” oval points to an oval reading “GALT Normal”, from which an arrow points to a shaded oval reading “No further action required”.
Informative Image: Increased galactose; First or second screen
Long Description: A flowchart is shown. An arrow points from an oval reading “Increased galactose; First or second screen” to a shaded oval reading “Quantitative RBC Galt Assay”. From that oval two arrows emerge. The first points to an oval reading “RBC Galt normal”, from which an arrow points to a shaded oval reading “Urine reducing substance assay”. From that oval two arrows emerge. The first points to an oval reading “Positive”, from which an arrow points to a shaded oval reading “Galactokinase assay”. From that oval to arrows emerge. The first points to an oval reading “Reduced”, from which an arrow points to an oval reading “Galactokinase deficiency”. The second arrow from the “Galactokinase assay” oval points to an oval reading “Normal”, from which four arrows emerge, pointing to ovals reading “Liver disease”, “Hepatic A-V malformation”, “Citrin deficiency”, and “Other inborn error of metabolism”. The second arrow from the “Urine reducing substance assay” oval points to an oval reading “Negative”. From this oval an arrow points to a shaded oval reading “Epimerase assay”, from which two arrows emerge. The first points to an oval reading “Positive”, from which an arrow points to an oval reading “Epimerase deficiency”. The second arrow from the “Epimerase assay” oval points to an oval reading “Negative”, from which an arrow points to an oval reading “False positive”. The second arrow from the “Quantitative RBC GALT assay” oval points to an oval reading “RBC GALT absent/reduced”, from which an arrow points to a shaded oval reading “See GALT deficiency algorithm: determine whether life-threatening form of galactosemia”.