Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.
D000328:Adult; D001786:Blood Glucose; D002849:Chromatography, Gas; D003677:Deficiency Diseases / Q000201:enzymology*; D004586:Electrophoresis; D005260:Female; D005690:Galactose / Q000097:blood; D005693:Galactosemias / Q000235:genetics*; D005782:Gels; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009713:Nucleotidyltransferases / Q000032:analysis* / Q000097:blood; D010375:Pedigree; D013213:Starch
D001786:Blood Glucose; D005782:Gels; D013213:Starch; D009713:Nucleotidyltransferases; D005690:Galactose