Treatment for Galactosemia
The treatment for classic galactosemia is immediate and lifelong dietary restriction of galactose, which must be initiated as soon as the diagnosis is suspected to prevent acute life-threatening complications including liver failure, sepsis, and death. 1
Immediate Management
Eliminate all galactose from the diet immediately upon suspicion of diagnosis, before confirmatory testing is complete. 2
- Stop breastfeeding and all milk products immediately 3
- Replace with soy-based formula for infants 3
- This intervention is life-saving and prevents acute mortality in the neonatal period 1, 2
Dietary Restrictions by Type
Classic Galactosemia (GALT Deficiency)
Strict lifelong galactose restriction is required, though the extent of restriction after infancy can be liberalized based on current evidence. 1, 4
Foods to completely eliminate:
Foods allowed in the diet:
- All fruits and vegetables without restriction 4, 2, 3
- Legumes 4
- Non-fermented soy products 4
- Various aged cheeses 4
- Foods containing caseinates 4
The evidence shows that after the neonatal period, a lactose-free diet without restriction of galactose-containing fruits and vegetables is the standard approach in most countries 2. The 2014 research challenges the necessity of life-long severe galactose restriction beyond lactose elimination 4.
Duarte Galactosemia (DG)
No dietary galactose restriction is required for Duarte galactosemia. 5
- Patients with DG (approximately 25% residual GALT activity) do not require diet therapy 5
- These individuals do not develop life-threatening acute complications 5
- History of diet treatment is not related to developmental outcomes in DG patients 5
Monitoring and Follow-Up
Monitor red blood cell galactose-1-phosphate (Gal-1-P) levels every 3-6 months to assess dietary compliance and therapeutic response. 1
- Target therapeutic range: 2-4 mg/dl 6, 1
- It takes 2-3 months for Gal-1-P to fall within therapeutic range after dietary restriction 6
- Gal-1-P is the primary marker for monitoring response to therapy 6
Refer all patients to a metabolic specialist for ongoing management. 6
Nutritional Considerations
Ensure adequate calcium intake, as this is a major ongoing concern with galactose-restricted diets. 3
- Intake of milk substitutes and calcium supplements is often inadequate 3
- Monitor calcium status regularly and supplement as needed 3
Critical Pitfalls to Avoid
Do not delay dietary restriction while awaiting confirmatory enzyme or genetic testing - the diet is life-saving and must be started immediately when galactosemia is suspected 2
Do not restrict diet in Duarte variant galactosemia - these patients have a benign clinical course and do not benefit from dietary restriction 5
Do not assume dietary restriction prevents all long-term complications - despite strict galactose restriction, patients with classic galactosemia frequently develop long-term complications including cognitive impairment, verbal dyspraxia, motor abnormalities, and hypergonadotrophic hypogonadism 2, 7. These complications may result from endogenous galactose synthesis or abnormal galactosylation 2.
Long-Term Surveillance
Implement comprehensive developmental monitoring focusing on early detection of motor, speech, and cognitive problems. 2