Galactosemia is a genotype of human genetic defects in metabolism that caused by the lack of 1 - phosphate acid UDP galactose transferase, resulting in the baby milk in lactose metabolism can not break down galactose generated. This is hereditary diseases that increased galactose in the blood and urine. The main symptoms of Galactosemia is dystrophy, cataracts, mental retardation and hepatosplenomegaly, etc.. The disease occurred in the absence of galactose congenital -1 - phosphate transferase uridine people. Galactose-free diet, the symptoms can be improved. Adults can produce UDP-galacto-se pyrophosphorylase, take galactose-1-phosphate into UDP galactose, so that no accumulation of galactose.
A human autosomal recessive genetic disease. Human milk and milk contain lactose. Lactose into the body to be broken down into glucose and galactose. Normal baby because of the necessary enzymes, the use of galactose can be decomposed. Suffering from galactosemia infant, on this enzyme for its pure-type genotype is homozygous recessive, due to the lack of this essential enzyme, can not use galactose, then the blood concentration of galactose increased vomiting, diarrhea, hepatomegaly, cataracts, growth retardation, mental retardation and other symptoms. If we do not control, would die in infancy. If diagnosed early, feeding in lactose and galactose-free foods, baby can be normal development. If it is found later, the liver has been damaged, can occur with cataract and mental retardation, though for treatment, but also difficult to recover. Now know that children with galactosemia lack the enzyme called galactose-1-phosphate uridyl transferase, Gl-PUT.
Galactosemia is a congenital metabolic disease with infant, an autosomal recessive inheritance, gene frequency of 32 ‰, an incidence rate of group 1 / 100000.
Under normal circumstances, the infant breast-feeding, the milk contains lactose decomposition by digestive enzymes for galactose and glucose, galactose kinase role in the formation of galactose under -1 - phosphate, and in the liver by galactose-1-phosthate uridyltransrerase Gal-1-PUT into glucose catalytic -1 - phosphate to enter glycolysis through. If as a result of gene mutations caused by the Gal-1-PUT structural changes and loss of function, then blocking galactose metabolism, galactose accumulated in the blood and tissues, and with the discharge of urine. Intermediate product galactose -1 - phosphate of harmful cells, the main violations of the liver, kidney, brain and lens, so a few days after breast-feeding in children with vomiting, diarrhea, dehydration and other symptoms. A week later, liver enlargement, there jaundice, ascites and cataract. A few months after the mental retardation is often aborted. This is galactosemia. After birth if not fed with milk and dairy products, baby can fully develop normally. If stop dairy food, can improve symptoms, but the intelligence can not be restored.