" /> UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency - CISMeF





Preferred Label : UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency;

NCIt definition : An inherited metabolic disorder characterized by increased levels of galactose in the blood. Clinical signs include failure to thrive, developmental delays, liver damage and jaundice, cataract, and ovarian failure.;

NCI Metathesaurus CUI : CL432934;

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29/07/2025


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