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It is an autosomal recessive metabolic disorder that can cause liver disease and death if untreated. Treatment of galactosemia is most successful if initiated early and includes dietary restriction of lactose intake. Because early intervention is key, galactosemia is included in newborn screening programs in many areas.
Galactosemia was the second disorder found to be detectable through newborn screening methods by Robert Guthrie. [3] Its incidence is about 1 per 60,000 births for people of European ancestry. In other populations the incidence rate differs. Galactosemia is about one hundred times more common (1:480 births) [4] in the Irish Traveller population ...
An impairment or deficiency in the enzyme, galactose-1-phosphate uridyltransferase (GALT), results in classic galactosemia, or Type I galactosemia. [2] Classic galactosemia is a rare (1 in 47,000 live births), autosomal recessive disease that presents with symptoms soon after birth when a baby begins lactose ingestion.
Unlike classic galactosemia, which is caused by a deficiency of galactose-1-phosphate uridyltransferase, galactokinase deficiency does not present with severe manifestations in early infancy. Its major clinical symptom is the development of cataracts during the first weeks or months of life, as a result of the accumulation, in the lens, of ...
Galactose epimerase deficiency has an autosomal recessive pattern of inheritance.. Galactose epimerase deficiency is an autosomal recessive disorder, [5] which means the defective gene is located on an autosome, and two copies of the defective gene - one from each parent - are required to inherit the disorder.
Duarte galactosemia is an inherited condition associated with diminished ability to metabolize galactose due to a partial deficiency of the enzyme galactose-1-phosphate uridylyltransferase. [1] DG differs from classic galactosemia in that patients with Duarte galactosemia have partial GALT deficiency whereas patients with classic galactosemia ...
This type of is associated with cataracts, but does not cause growth failure, mental retardation, or hepatic disease. Dietary reduction of galactose is also the treatment but not as severe as in patients with classical galactosemia. This deficiency can be systemic or limited to red blood cells and leukocytes. [citation needed]
Name Enzyme Description galactokinase deficiency: Galactokinase: Causes cataracts, which form due to the elevation of galactitol that accumulates when galactose is metabolized in an alternative pathway that is not the Leloir pathway. [2]