TY - JOUR
T1 - Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia
AU - Huidekoper, Hidde H.
AU - Bosch, Annet M.
AU - Van Der Crabben, Saskia N.
AU - Sauerwein, Hans P.
AU - Ackermans, Mariëtte T.
AU - Wijburg, Frits A.
PY - 2005/3
Y1 - 2005/3
N2 - Introduction. Recently, evidence has been presented that adult patients with classical galactosemia have higher than expected galactose tolerance. This may be caused by a decrease of endogenous galactose production with ageing. Alternatively, suppression of endogenous galactose production by exogenous galactose might be implicated. The aim of this study was to determine if the rate of appearance of galactose is suppressed by exogenous galactose. Materials and Methods. Two adult patients with classical galactosemia and three healthy control subjects were given a primed continuous infusion of d-[1- 13C]galactose to determine the rate of appearance of galactose (GAR, expressed as μmol/kg/h) before and during additional galactose supplementation. After initial assessment of GAR (GAR1), GAR was determined during doubled (GAR2) or quadrupled (GAR4) galactose infusion. Results. GAR1 was 2.48 and 2.44 in patients 1 and 2, and 0.46, 0.34, and 0.39 in control subjects 1, 2, and 3, respectively. GAR2 was 2.43 and 2.13 in patients 1 and 2, and 0.57, 0.38, and 0.47 in control subjects 1, 2, and 3, respectively. In patient 1 the experiment was repeated during quadrupled galactose infusion. Here GAR1 was 3.01 and GAR4 was 3.26. Conclusions. No significant differences between GAR before and during additional galactose infusion were found in patients and in control subjects. GAR1 was significantly higher in patients than in control subjects. We conclude that the rate of appearance of galactose is not influenced by exogenous galactose, at least under short-term conditions, in patients with classical galactosemia and in control subjects.
AB - Introduction. Recently, evidence has been presented that adult patients with classical galactosemia have higher than expected galactose tolerance. This may be caused by a decrease of endogenous galactose production with ageing. Alternatively, suppression of endogenous galactose production by exogenous galactose might be implicated. The aim of this study was to determine if the rate of appearance of galactose is suppressed by exogenous galactose. Materials and Methods. Two adult patients with classical galactosemia and three healthy control subjects were given a primed continuous infusion of d-[1- 13C]galactose to determine the rate of appearance of galactose (GAR, expressed as μmol/kg/h) before and during additional galactose supplementation. After initial assessment of GAR (GAR1), GAR was determined during doubled (GAR2) or quadrupled (GAR4) galactose infusion. Results. GAR1 was 2.48 and 2.44 in patients 1 and 2, and 0.46, 0.34, and 0.39 in control subjects 1, 2, and 3, respectively. GAR2 was 2.43 and 2.13 in patients 1 and 2, and 0.57, 0.38, and 0.47 in control subjects 1, 2, and 3, respectively. In patient 1 the experiment was repeated during quadrupled galactose infusion. Here GAR1 was 3.01 and GAR4 was 3.26. Conclusions. No significant differences between GAR before and during additional galactose infusion were found in patients and in control subjects. GAR1 was significantly higher in patients than in control subjects. We conclude that the rate of appearance of galactose is not influenced by exogenous galactose, at least under short-term conditions, in patients with classical galactosemia and in control subjects.
UR - https://www.scopus.com/pages/publications/13444274445
U2 - 10.1016/j.ymgme.2004.09.013
DO - 10.1016/j.ymgme.2004.09.013
M3 - Article
C2 - 15694176
AN - SCOPUS:13444274445
SN - 1096-7192
VL - 84
SP - 265
EP - 272
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 3 SPEC. ISS.
ER -
