Answer:
Explanation:
Galactosemia is an inherited metabolic disorder caused by changes, or mutations, in both copies of an individual’s GALT gene. In the majority of cases, children with galactosemia do not have parents with galactosemia. Mother and father separately are a silent carrier of the condition, which is expressed in the child (autosomal recessive inheritance).
Each individual has two copies of the GALT gene – one from father and one from mother. In case of any changes of these genes (mutations) that prevents the gene from working correctly. In order to inherit galactosemia, it is necessary for a child to have two GALT gene changes. In case of one GALT gene change there is no galactosemia.
Infants with galactosemia may be identified through newborn screening programs or by symptoms that present during the first few weeks of life. Untreated infants develop liver and kidney disease, cataracts in their eyes, and serious infections.
