Defective GALT can cause GALCT

Stable Identifier
R-HSA-5609978
Type
Pathway
Species
Homo sapiens
Synonyms
Defective GALT can cause Galactosemia
ReviewStatus
5/5
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Defective GALT can cause GALCT
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Galactose-1-phosphate uridylyltransferase (GALT) is one of the enzymes involved in galactose metabolism in the Leloir pathway. GALT catalyses the transfer of uridine monophosphate (UMP) from UDP-glucose (UDP-Glc) to galactose-1-phosphate (Gal1P) to form UDP-galactose (UDP-Gal) and glucose 1-phosphate. Defects in GALT can cause Galactosemia (GALCT; MIM:230400), an autosomal recessive disorder of galactose metabolism presenting in neonatals that causes jaundice, cataracts and mental retardation (Bosch 2006).
Literature References
PubMed ID Title Journal Year
16838075 Classical galactosaemia revisited

Bosch, AM

J. Inherit. Metab. Dis. 2006
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
galactosemia DOID:9870 Galactose intolerance, Galactosaemia
Authored
Jassal, B  (2014-07-18)
Reviewed
Timson, DJ  (2015-02-25)
Created
Jassal, B  (2014-07-18)
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