Cause
The absence non-functionality of Galactose-1- phosphate Uridylyltransferase (GALT) enzyme leads to galactosemia. This enzyme present in liver is responsible for the breakdown of galactose (a sugar by-product of lactose found in breast milk, cow's milk, and other dairy foods) into glucose. When this conversion does not occur, galactose and its by-products (galactose-1- phosphate) accumulate in the tissues and blood, and also affect other body parts. or of Galactose-1-Phosphate
Symptoms
Galactosemia produces the following symptoms within several days or weeks after birth:
1 Appetite loss,
2 Jaundice (yellowing of skin and other body parts).
3 Enlargement of liver,
4 Liver damage,
5 Abdominal swelling due to fluid accumulation,
6 Abnormal bleeding,
7 Loss in weight, and
8 Increased risk of infection.
Diagnosis
Galactosemia is diagnosed with the help of tests performed during a regular screening of the new-borns.
A blood test is performed by withdrawing blood from the heel of the baby to detect the high levels of galactose and low levels of enzyme activity.
A urine test and genetic testing can also diagnose galactosemia.
Treatment
The most common treatment for galactosemia is consumption of a low galactose diet.
Thus, intake of milk and other foods containing lactose or galactose should be avoided.
There is no cure for galactosemia, nor is there any medication which could replace GALT enzymes.
Only a low-galactose diet can prevent or reduce the risk of some complications (but not all of them).
In some cases, children may suffer from speech delays, learning disabilities, and reproductive issues even after taking required precautions. However, speech problems and delays can be improved by taking speech therapy, along with the treatment plan.
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