Galactokinase

General info on Galactokinase here

Link to Newborn Screening info - Click here.

Galactokinase: Is an enzyme diffecincy. If eaten the wrong kind of food it can be deadly. The enzyme that isn't producing galactose. Galactose is a simple sugar, commonly known as "brain sugar". It is meant to produce a large amount of energy but in a smaller amount of it. The first time galactokinase was discovered was in 1965. The patient who first had it had cataracts and galactosuria. When the patient was admitted doctors saw these to affects in a single person so they assumed that it was a different kind of galactosemia.

Treatment: Some of the treatment for this rare mutation is surgery. Surgery is to get rid of cataracts. Another form of it is a specific form of diet. If a person eats of drinks a wrong type of food or beverage, they can be harmed and or killed.