Also found in: Dictionary, Thesaurus, Encyclopedia.
Related to galactosaemia: galactosemia, Classic Galactosemia
galactosaemiaA genetic disorder due to the absence of an enzyme necessary for the breakdown of milk sugar (galactose) to glucose. The accumulating galactose may cause diarrhoea, vomiting, cataracts, mental retardation, liver damage with jaundice and malnutrition. Infants fed on a galactose-free diet can grow up entirely normal.
galactosaemiaa rare INBORN ERROR OF METABOLISM in which the breast-fed human infant is literally poisoned by the mother's milk. The affected individuals are unable to metabolize the milk sugar GALACTOSE, which normally is converted to glucose ready for oxidation and the release of energy Instead, affected infants store the galactose in various tissues including the brain, resulting in severe malnutrition along with mental retardation.
Galactosaemia is due to blockage of the step galactose-1-phosphate to glucose-1-phosphate because the enzyme uridyltransferase is absent or inactive. The condition is controlled by an autosomal gene probably on chromosome 9, affected individuals being homozygous for the recessive alleles. The transferase enzyme can be detected in foetal cells from AMNIOCENTESIS before birth and, if newborn infants are given a special diet, development will be normal.