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 micromol/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. GAR(2) 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.
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 micromol/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. GAR(2) 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.
Authors: Patricia P Jumbo-Lucioni; Kathryn Garber; John Kiel; Ivo Baric; Gerard T Berry; Annet Bosch; Alberto Burlina; Ana Chiesa; Maria Luz Couce Pico; Sylvia C Estrada; Howard Henderson; Nancy Leslie; Nicola Longo; Andrew A M Morris; Carlett Ramirez-Farias; Susanne Schweitzer-Krantz; Susanne Scheweitzer-Krantz; Catherine Lynn T Silao; Marcela Vela-Amieva; Susan Waisbren; Judith L Fridovich-Keil Journal: J Inherit Metab Dis Date: 2012-03-27 Impact factor: 4.982
Authors: M E Rubio-Gozalbo; M Haskovic; A M Bosch; B Burnyte; A I Coelho; D Cassiman; M L Couce; C Dawson; D Demirbas; T Derks; F Eyskens; M T Forga; S Grunewald; J Häberle; M Hochuli; A Hubert; H H Huidekoper; P Janeiro; J Kotzka; I Knerr; P Labrune; Y E Landau; J G Langendonk; D Möslinger; D Müller-Wieland; E Murphy; K Õunap; D Ramadza; I A Rivera; S Scholl-Buergi; K M Stepien; A Thijs; C Tran; R Vara; G Visser; R Vos; M de Vries; S E Waisbren; M M Welsink-Karssies; S B Wortmann; M Gautschi; E P Treacy; G T Berry Journal: Orphanet J Rare Dis Date: 2019-04-27 Impact factor: 4.123
Authors: Michel van Weeghel; Lindsey Welling; Eileen P Treacy; Ronald J A Wanders; Sacha Ferdinandusse; Annet M Bosch Journal: Orphanet J Rare Dis Date: 2018-08-24 Impact factor: 4.123