Galactosemia

Signs and Symptoms:
1. Persistent vomiting and diarrhoea.
2. Poor weight gain and failure to thrive.
3. Jaundice and hepatomegaly.
4. Irritability and lethargy.
5. Risk of sepsis, especially due to E. coli.

Initial Investigation:

i. Serum Galactose-1-Phosphate Uridyltransferase (GALT) Activity: Measures the activity of the enzyme deficient in classical galactosemia.
ii. Newborn Screening Test: Often includes screening for galactosemia by measuring galactose levels and/or GALT enzyme activity.

Further Management:

i. Dietary management: Immediate removal of lactose and galactose from the diet.
ii. Supportive care: Management of jaundice, dehydration, and any infections.