|
•
Disorders
•
Health
Professionals' Page
•
Parents' Page
• Reports
& Publications
•
Related Links
•
NBS News
•
NBS Privacy Policy
•
Statistics
•
Contact NBS
|
|
|
Q. What is Galactosemia? |
|
A.
Galactosemia is a treatable disorder.
It affects the way the body processes the sugar galactose, a component of
milk and dairy products.
Children with galactosemia cannot process galactose. As
a result, galactose and other by-products build up in the bloodstream and cause
physical and developmental damage. |
|
Q. How does the body normally process galactose? |
|
|
A.
The body normally converts galactose into glucose, which is used to fuel
the body.
This conversion is made possible by several enzymes.
One of these, named galactose-1-phosphate uridyltransferase (GALT), is
associated with galactosemia. |
|
Q. What are the effects of having galactosemia if it is not
treated? |
|
A.
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. |
|
Q. What is the treatment for galactosemia? |
|
A.
The first step in treatment is to remove the baby from breast milk and
commercial formula.
Soy-based formulas that contain no galactose should be substituted into
the baby’s diet.
Individuals with galactosemia must remain on a restricted diet and
maintain low blood galactose levels throughout life. |
|
Q. Why would a child have galactosemia? |
|
A.
Galactosemia
is an inherited disorder.
It results when a baby receives a non-working GALT gene from each parent.
For more information about this, contact your health care provider or a
genetic counselor. |
|
