Galactose-1P uridylyltransferase deficiency

Definition:

Galactosemia type I results from mutations in GALT encoding the galactose-1-phosphate uridylyltransferase. It is the most commonly detected clinically severe form of galactosemia. Patients may develop a pathology that includes failure to thrive, vomiting, jaundice, and sometimes bacterial infection. In the long term, disabilities in learning, speech, ovarian function, and movement can manifest.

References:

[1]. J P Elsevier, et al. The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative. J Biol Chem. 1996 Dec 13;271(50):32002-7. [Content Brief]

[2]. K Riehman, et al. Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase. J Biol Chem. 2001 Apr 6;276(14):10634-40. [Content Brief]

[3]. Thomas J McCorvie, et al. Structural and molecular biology of type I galactosemia: disease-associated mutations. IUBMB Life. 2011 Nov;63(11):949-54. [Content Brief]

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