BACKGROUND Galactosemia is one of the most important inherited disorders detected by newborn screening tests. Abnormal results in screening tests should be confirmed by enzyme activity assays, but existing methods are time and labor intensive. We developed a novel multiplex enzyme assay for galactosemia using ultraperformance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). METHOD...

Classic galactosemia is an autosomal recessive disorder of galactose metabolism due to deficiency of the enzyme galactose-1phosphate uridyltransferase (GALT). Most affected babies develop severe manifestations such as failure to thrive, vomiting, diarrhea, hypoglycemia, hypotonia, jaundice (which is often unconjugated in the beginning) and cataracts within 1-2 weeks of starting milk feeding [1,...

0,"ne purpose of this award to to preserve the name of a great scientist who has contributed so much to the field of ophthalmology. If this were the only purpose, this award would not be necessary, for Dr. Friedenwald is immortalized by his many publications which serve as catalysts for a great number of other investigations. This presentation on the cataracts in galactosemia is an illustration.