title: Clinical and laboratory approach for the diagnosis of galactosaemia in Africa.
abstract: A new method free from haemoglobin interference is described to measure erythrocyte galactose-l-phosphate uridyltransferase(GALT) activity levels. Since haemoglobin is removed by acid denaturation and precipitation with chloroform, only a simple photometer is required to assay GALT activity, implying that this method can be performed even when only basic laboratory facilities are available. Using this method, four infants have been found to suffer from galactosaemia due to GALT deficiency. Three children had very low, but still measurable GALT activities (< 1.0 mumol glucose-l-phosphate formed/gHb/hr) while one child had no detectable erythrocyte GALT activity. Compared to the other three children, this latter infant was seriously ill and required intensive care treatment before the diagnosis of galactosaemia was made. These results confirm the existence of different GALT variants in galactosaemia, in which the variant with zero activity has the most serious clinical sequelae if not appropriately treated.
authors.affiliation: Department Chemical Pathology, Faculty of Medicine, University of Pretoria, South Africa.
authors.forename: I C
authors.initials: IC
authors.lastname: van den Berg
authors.forename: J B
authors.initials: JB
authors.lastname: Ubbink
authors.forename: S
authors.initials: S
authors.lastname: Bissbort
authors.forename: W J
authors.initials: WJ
authors.lastname: Vermaak
mesh_terms: D000349:Africa / Q000453:epidemiology; D044383:Black People; D004796:Clinical Enzyme Tests; D004592:Electrophoresis, Starch Gel; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D005693:Galactosemias / Q000175:diagnosis* / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007753:Laboratories; D008297:Male; D010641:Phenotype; D010783:Photometry / Q000379:methods; D012680:Sensitivity and Specificity; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000378:metabolism*
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase