Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia

GT Berry, I Nissim, Z Lin, AT Mazur, JB Gibson, S Segal - The Lancet, 1995 - thelancet.com
GT Berry, I Nissim, Z Lin, AT Mazur, JB Gibson, S Segal
The Lancet, 1995thelancet.com
Despite restricted ingestion of lactose, patients with galactose-1–phosphate
uridyltransferase deficiency have raised concentrations of galactose metabolites in blood
and urine. Endogenous production of galactose may underline this phenomenon. Using
isotopically labelled galactose in a continuous intravenous infusion, we employed the
steady-state flux method to calculate endogenous galactose production rate in three normal
men and three patients with classic galactosaemia. We found that galactosaemic patients …
Abstract
Despite restricted ingestion of lactose, patients with galactose-1–phosphate uridyltransferase deficiency have raised concentrations of galactose metabolites in blood and urine. Endogenous production of galactose may underline this phenomenon. Using isotopically labelled galactose in a continuous intravenous infusion, we employed the steady-state flux method to calculate endogenous galactose production rate in three normal men and three patients with classic galactosaemia. We found that galactosaemic patients and normal subjects synthesise gram quantities of galactose per day. The rate of synthesis ranged from 0·53–1·05 mg/kg per h. Endogenous production of galactose may be an important factor in the pathogenesis of the complications of the brain and ovary, and could explain the persistent elevation of galactose metabolites in patients despite dietary restriction of galactose.
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