title: Diagnosis of classical galactosaemia.
abstract: We report a child with classical galactosaemia whose diagnosis was missed until 12 weeks of age. The limitations of urine screening tests are discussed and the wider use of a qualitative enzyme assay for screening is recommended. Reference ranges for a quantitative enzyme assay using 14galacoste-1-phosphate as substrate are presented.
mesh_terms: D004796:Clinical Enzyme Tests; D005693:Galactosemias / Q000175:diagnosis* / Q000235:genetics; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase