Differential Diagnosis: : Galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency); GALT heterozygotes; GALT variants; artifactual reductions due to enzyme inactivation by high temperature and/or humidity.
Condition Description: In galactosemia, GALT deficiency results in accumulation of galactose-1-phosphate (Gal- 1-P) and galactose, causing multi-organ disease.
YOU SHOULD TAKE THE FOLLOWING ACTIONS:
Quantification of erythrocyte galactose-1-phosphate (Gal-1-P) and GALT. Classical galactosemia shows <1 % GALT activity and markedly increased Gal-1-P. Transfusions in infant can invalidate the results of erythrocyte enzyme assays. Enzyme variants may be distinguished by GALT electrophoresis or mutation analysis.
Classical galactosemia presents in the first few days of life and may be fatal without treatment. Signs include poor feeding, vomiting, jaundice and, sometimes, lethargy and/or bleeding. Neonatal E. coli sepsis can occur and is often FATAL. Treatment is withdrawal of milk and, if symptomatic, emergency measures.