Galactose-1-phosphate in the pathophysiology of galactosemia.
In galactosemia, galactose-1-phosphate (gal-1-P) is not properly metabolized and accumulates in the fetus and after birth in various tissues when lactose or galactose is ingested. Well-treated galactosemics retain a low level of red cell gal-1-P which increases after breaks of diet. The ester is an indicator of the biogenesis of galactose from glucose and has been considered a pathogenic agent by inhibiting enzymes such as glucose-6-phosphatase, glucose-6-phosphate dehydrogenase, phosphoglucomutase, and glycogen phosphorylase, but the evidence remains presumptive. A futile cycle of galactose phosphorylation and dephosphorylation, and the sequestration of phosphorus in gal-1-P are also suspected to play a role in the pathogenesis of galactosemia.
Gitzelmann
R
R
Department of Pediatrics, University of Zürich, Switzerland.
D005690:Galactose / Q000378:metabolism; D005693:Galactosemias / Q000378:metabolism*; D005695:Galactosephosphates / Q000378:metabolism*; D005947:Glucose / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D010766:Phosphorylation
D005695:Galactosephosphates; C029973:galactose-1-phosphate; D005947:Glucose; D005690:Galactose