Defective GALT can cause Galactosemia

Stable Identifier
R-HSA-5609978
Type
Pathway
Species
Homo sapiens
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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
Participant Of
Disease
Name Identifier Synonyms
galactosemia 9870 Galactose intolerance, Galactosaemia
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