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What is Galactosemia and How is it Diagnosed?

_Galactosemia_ is a hereditary disorder caused by mutations in the GALT gene, leading to the inability to metabolize galactose properly. Symptoms include jaundice, vomiting, liver enlargement, and failure to thrive. Diagnosis is typically made through newborn screening programs, which measure the level of galactose-1-phosphate in the blood. Confirmatory tests include enzyme activity assays and genetic testing.

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