The evaluation of galactosemia begins with a history and physical examination.
Infants suspected of galactosemia may have one of three different screening tests performed. One test detects high levels of galactose in the bloodstream.
Another test can check for the presence of galactose transferase. If this test is positive (no enzyme is present), than an exact measurement of the enzyme level in the bloodstream can be measured to confirm the diagnosis.
Continue to Galactosemia Treatment
- Bosch AM, Grootenhuis MA, Bakker HD, Heijmans HS, Wijburg FA, Last BF. Living with classical galactosemia: health-related quality of life consequences. Pediatrics. 2004 May;113(5):e423-8. 
- Elsas LJ 2nd, Lai K. The molecular biology of galactosemia. Genet Med. 1998 Nov-Dec;1(1):40-8. 
- Widhalm K, Miranda da Cruz BD, Koch M. Diet does not ensure normal development in galactosemia. J Am Coll Nutr. 1997 Jun;16(3):204-8.