Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents with symptoms suggestive of classic galactosemia, including poor feeding, failure to thrive, lethargy, and jaundice following the initiation of milk-based feeds. History is significant for vomiting, diarrhea, and hepatomegaly. Newborn screening results pending/positive for GALT deficiency.
Clinical Examination Findings
Physical examination reveals jaundice, hepatomegaly, and signs of dehydration. Neurological assessment shows irritability or lethargy. Ophthalmic evaluation indicates presence of cataracts. Abdominal exam confirms liver enlargement and potential ascites.
Treatment Protocol
Immediate cessation of all lactose and galactose-containing feeds (breast milk and standard infant formula). Initiation of soy-based or elemental formula. Monitoring of blood galactose-1-phosphate levels and urinary galactitol. Supportive care for liver dysfunction and sepsis prophylaxis if indicated.