How is galactosemia diagnosed?

Condition analysis:
Galactosemia can be diagnosed through blood tests. The disease is detected by measuring the level of enzyme in red blood cells, white blood cells or liver. Affected patients have no enzyme activity; carriers (parents) have intermediate enzyme activity (about half the normal level). A galactose tolerance test should never be done, as it may be harmful. Affected infants who ingest galactose will excrete it in large quantities in their urine where it can also be detected. If the infant is vomiting, and not taking milk, the test can be negative. If the disease is suspected, the diagnosis should be confirmed by blood testing.

Instructions:
Integrative Therapies: Currently, there is a lack of scientific data on the use of integrative therapies for the treatment or prevention of galactosemia. The therapies listed below have been studied for related conditions such as calcium and vitamin D deficiency. The integrative therapies listed below should be used only under the supervision of a qualified healthcare provider and should not be used in replacement of other proven therapies.