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Title
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Classic Galactosemia
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ImagePath
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System
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carbohydrate − galactose metabolism (GALT)
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Overview
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Life‑threatening AR deficiency of galactose‑1‑phosphate uridyltransferase (GALT).
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Pathophysiology
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Galactose‑1‑P accumulation in liver, brain, kidney → phosphate trapping, organ dysfunction; galactitol → cataracts.
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Presentation
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Breast‑fed neonate with jaundice, vomiting, E. coli sepsis, cataracts, renal Fanconi syndrome.
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Diagnosis
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↑ galactose‑1‑P in RBCs, positive newborn screen, GALT assay or gene sequencing.
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Management
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Eliminate galactose & lactose; urgent IV fluids & broad‑spectrum antibiotics for sepsis.
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Epidemiology
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≈1 : 60 000; newborn screening in many countries.
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Tags
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