[Biochemical and clinical findings in congenital abnormalities of galactose metabolism (author's transl)].
Current knowledge of the biochemical basis of abnormalities in galactose metabolism are discussed. The clinical picture, analysis of frequency and therapy are described. Although the galactokinase defect hat been described only rarely, abundant literature has been published on the Gal-1-PUT defect. Five variations of this defect are known (Duarte, Los Angeles, Rennes, Indiana and Negro variants), but these simulate only partially the clinical picture of galactosaemia. The UDP-Gal-4-epimerase defect has only once been described. Defects in galactose metabolism which show autosomal recessive inheritance are demonstrated in milk-fed infants by means of the Guthrie test. If the clinical picture arouses the suspicion of a defect in Gal-1-PUT or galactokinase, then a milk-free diet should be given until the diagnosis has been verified by enzyme analysis. Children who have been fed on a lactose-free diet show normal physical and mental development. If possible the entire family of the proband should undergo enzyme analysis in order to detect and to counsel all the heterozygotes in the family. Genetic counselling is considered to be absolutely indicated in this case. Termination of pregnancy is not indicated under any circumstances.
D000255:Adenosine Triphosphate / Q000378:metabolism; D001786:Blood Glucose; D002238:Carbohydrate Epimerases / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D005690:Galactose / Q000378:metabolism*; D005817:Genetic Counseling; D005941:Glucokinase / Q000378:metabolism; D005954:Glucosephosphate Dehydrogenase / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007787:Lactose Intolerance / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D010375:Pedigree; D014166:Transferases / Q000378:metabolism
D001786:Blood Glucose; D000255:Adenosine Triphosphate; D005954:Glucosephosphate Dehydrogenase; D014166:Transferases; D005941:Glucokinase; D002238:Carbohydrate Epimerases; D005690:Galactose
Biochemie und Klinik der angeborenen Störungen des Galaktose-Stoffwechsels