Literature summary for 2.7.7.12 extracted from

De Lucca, M.; Casique, L.; Cornejo, V.
Alterations of galactose metabolism caused by deficit of galactose-1-phosphate uridylyltransferase activity An overview of galactosemia type I (2019), Molecular Nutrition: Carbohydrates (ed. Patel V.B.), 2019, 369-395 .

No PubMed abstract available

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Protein Variants

Protein Variants	Comment	Organism
K285N	the p.K285N allele shows a high frequency in Caucasians and is associated to null blood GALT activity and a severe clinical phenotype	Homo sapiens
Q188R	the p.Q188R allele shows a high frequency in Caucasians and is associated to null blood GALT activity and a severe clinical phenotype	Homo sapiens
S135L	the substitution p.S135L is common in Africans and is associated to a mild phenotype albeit having less than 1% residual enzymatic GALT activity	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P07902	-	-

Synonyms

Synonyms	Comment	Organism
galactose-1-phosphate uridylyltransferase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	galactosemia type I is caused by a deficiency of the galactose-1-phosphate uridylyltransferase enzyme (GALT). Galactosemic patients show accumulation of Gal, Gal-1-P, galactitol, and galactonate and decrease levels of UDP-hexoses, all are responsible of the observed phenotype. Galactosemia type I patients harbor variations along the whole sequence of the GALT gene, most variations are of the missense type and are commonly present in compound heterozygous state	Homo sapiens
metabolism	enzyme of the Leloir pathway	Homo sapiens

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Release 2023.1 (January 2023)