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5C51.40 Galactose-1-phosphate uridyltransferase deficiency

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

synonyms

• Galactose-1-phosphate uridyltransferase deficiency
• Classical galactosaemia
• GALPUT deficiency - [Galactose-4-phosphate uridyltransferase] deficiency
• classic galactosaemia
• deficiency of hexose-1-phosphate uridylyltransferase
• deficiency of udpglucose-hexose-1-phosphate uridylyltransferase
• deficiency of galactose-1-phosphate uridylyltransferase
• galactose-1-phosphate uridyl transferase deficiency
• transferase deficiency galactosemia
• deficiency of uridyl transferase
• deficiency of utp-hexose-1-phosphate uridylyltransferase
• utp-hexose-1-phosphate uridyltransferase deficiency

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