title: [Hereditary abnormalities of galactose metabolism: diagnosis and biochemical supervision (author's transl)].
abstract: The authors define the main stages of the biochemical study of hereditary abnormalities of galactose metabolism. They review laboratory examinations for detection, enzyme examinations which provide the diagnostic proof, further examinations which permit one to follow the course and efficacy of a galactose-free diet, the demonstration of genetic variants, the technics of antenatal diagnosis and routine neonatal detection.
mesh_terms: D001681:Biological Assay / Q000379:methods; D002238:Carbohydrate Epimerases / Q000172:deficiency*; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis*; D002854:Chromatography, Paper; D004912:Erythrocytes / Q000201:enzymology; D004926:Escherichia coli / Q000201:enzymology; D005260:Female; D005686:Galactokinase / Q000172:deficiency*; D005690:Galactose / Q000378:metabolism* / Q000652:urine; D005693:Galactosemias; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D009713:Nucleotidyltransferases / Q000172:deficiency*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014534:UDPglucose 4-Epimerase / Q000172:deficiency*; D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood / Q000172:deficiency*
chemical_list: D005686:Galactokinase; D009713:Nucleotidyltransferases; D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase; D002238:Carbohydrate Epimerases; D014534:UDPglucose 4-Epimerase; D005690:Galactose
vernacular_title: Anomalies héréditaires du métabolisme du galactose: diagnostic et surveillance biochimiques.