Is galactosemia a genetic disorder?
Galactosemia is an autosomal recessive genetic disorder. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent.
What gene is affected in galactosemia?
Mutations in the GALT, GALK1, and GALE genes cause galactosemia. These genes provide instructions for making enzymes that are essential for processing galactose obtained from the diet. These enzymes break down galactose into another simple sugar, glucose, and other molecules that the body can store or use for energy.
Is galactosemia a disability?
Neurological functioning, general developmental, and language and speech development were assessed in all cases. The results show that even medically well treated children and young adults with galactosemia are at risk to develop disabilities, including mental retardation, speech and language disabilities.
What happens if galactosemia is not treated?
Untreated galactosemia can cause rapid, unexpected death due to an infection that invades the blood. Infants with untreated galactosemia may also develop brain damage, liver disease, and cataracts. Each child with galactosemia is different so the outcome will not be the same for all children.
How long do you live with galactosemia?
With a galactose-restricted diet patients have a normal life expectancy. However, patients may still suffer long-term complications such as problems of mental development, disorders of speech, hypergonadotrophic hypogonadism and decreased bone mineral density (Bosch 2006).
What foods should be avoided in galactosaemia?
All animal milks (human breast milk,cow’s milk,goats milk)*Please note: some hard mature cheeses are allowed.
Is there any natural treatment for galactosemia?
Galactosemia Treatment. A low-galactose diet is the best treatment for galactosemia, which means milk and other dairy products cannot be consumed. There is no cure or medication that can replace the missing enzymes. Following a low-galactose diet can help to reduce the risk of complications but not all of them.
Is there a cure for galactosemia?
There is no cure for galactosemia or approved medication to replace the enzymes. Although a low-galactose diet can prevent or reduce the risk of some complications, it may not stop all of them. In some cases, children still develop problems such as speech delays, learning disabilities, and reproductive issues.
Does galactosemia go away?
Galactosemia will not go away without treatment. This disease causes an inability to break down galactose. Proper treatment consists of eliminating all dairy products and eating a low-galactose diet. If a person consumes galactose, the sugar will not metabolize and will instead continue to build up in their body.