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PubMed1995

Galactosaemia.

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Galactosemias↗
PubMed1995

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

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 underlie 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.

Adult↗
PubMed2000

Endothelins, their receptors, and retinal vascular dysfunction in galactose-fed rats.

PURPOSE: Endothelins are potent vasoactive factors that have been implicated in the pathogenesis of several vascular disorders. This study was conducted to determine the role that endothelins play in the development of retinal microangiopathy under hyperhexosemic conditions induced by galactose feeding. METHODS: Retinal blood flow was determined using Doppler sonography in galactose fed rats with or without an endothelin receptor antagonist (Bosentan) treatment and were compared to control rats after 1 and 6 months of follow-up. Levels of endothelin-1, endothelin-3, (ET-1, ET3) and receptors endothelin A, endothelin B, (ET(A), ET(B)) mRNA expression were determined by semiquantitative RT-PCR. Immunohistochemical distribution of ET-1 and ET-3, ligand binding, and autoradiography to determine ET receptor distribution were carried out. RESULTS: Retinal vasoconstriction measured by an increase in resistivity index (RI) was present in 1 month galactose feeding compared to controls, which was prevented by Bosentan treatment. After 6 months of follow up all animal groups exhibited higher RI compared to their 1 month counterpart, although they were not different from each other. Compared to the controls, after 1 month levels of mRNA for ET-1, ET-3, and ET(A) were increased in galactose-fed rats, whereas ET(B) mRNA production remained similar to controls. After 6 months, all four genes exhibited increased levels compared to the controls, and no effect of Bosentan treatment on gene expression was evident. Increased immunoreactivity of ET-1 and ET-3 was determined, as well as increased ET receptor concentration was further present in the retina of galactose-fed animals. CONCLUSION: The data suggests that endothelin production is increased under hyperhexosemic conditions and that the endothelins play an important role in regulating the hemodynamics of retinal blood flow.

Animals↗
PubMed1976

[Study of the fucose-rich oligosaccharides in the urine of healthy and melituric subjects with A, B and O blood groups].

The application of adsorption chromatography on charcoal-Celite leads the authors to characterize in normal urines a class of fucose-rich oligosaccharides which possess blood group activities and are related to the phenotypes ABH, Le and secretor. Most of these oligosaccharides have a glucose residue in reducing terminal positions. Excretion of some oligosaccharides increases in the urine of diabetic and lactosuric subjects. In spontaneous or induced galactosurias, the elimination of oligosaccharides with a glucose residue in reducing terminal position decreases while appears a large amount of new oligosaccharides which all possess a galactose residue in reducing terminal position. These results lead to the conclusion that urinary oligosaccharides do not originate from glycosphingolipids, but from transglycosylation on carbohydrates which exist free in the organism: glucose for normal and diabetic subjects, lactose or galactose for lactosuric and galactosuric subjects, respectively.

ABO Blood-Group System↗
PubMed2003

[Premature ovarian failure in galactosaemia: pathophysiology and clinical management].

Classic galactosaemia is a rare aetiology of premature ovarian failure. It is caused by galactose-1-phosphate uridyltransferase deficiency and leads to a severe disease in the newborn. This acute toxic syndrome will completely regress under a galactose-free diet, but some long-term complications, particularly hypergonadotropic hypogonadism in female patients, are frequently observed. Ovarian toxicity could be due to intracellular accumulation of galactose metabolites or to deficient glycosylation reactions. Moreover, the tremendous follicular decrease in the galactosaemic ovary could also involve programmed cell death (apoptosis). As the exact mechanisms of this ovarian injury are still unknown, there is no prevention of follicular loss, thus clinical management especially includes hormonal replacement therapy in order to prevent bone loss and cardiovascular risks and sometimes to allow patients to become pregnant.

Estrogen Replacement Therapy↗
PubMed1998

Determination of blood sugars by high pressure liquid chromatography with fluorescent detection.

In this study, a high pressure liquid chromatography method with fluorescent detector was developed to analyze blood galactose, lactose and glucose simultaneously. Plasma sugars were prepared as fluorescent derivatives to react with FMOC-hydrazine (9-fluorenyl methyl chloroformate). A C18 reversed phase column and a fluorescent detector were used and run in ambient. The resolution index of galactose and glucose derivatives in the analytical method was 1.15. The coefficients of variation of the analysis were less than 7.5%. The concentration of FMOC-hydrazine did not significantly influence the analytical results for determination of the concentration of galactose. However, the ratios of acetonitrile in the mobile phase significantly affected the analysis of the fluorescent derivatives of sugars. The sensitivity of this method for galactose detection was 5 micrograms ml-1, and the required plasma volume for testing was only 25 microliters each. This analytical method was successfully applied to study the pharmacokinetics of galactose in vivo in a rabbit model.

Animals↗
PubMedDate not supplied

Galactose metabolism and ovarian toxicity.

Galactose is an energy-providing nutrient and also a necessary basic substrate for the biosynthesis of many macromolecules in the body. Metabolic pathways for galactose are important not only for the provision of these pathways but also for the prevention of galactose and galactose metabolite accumulation. Problems with galactose metabolism can cause a variety of clinical manifestations in animals and humans. It has been found that the mammalian ovary is particularly susceptible to damage from the accumulation of galactose and galactose metabolites. The galactose metabolites Gal-1-P, galactitol, and UDPgal are all considered to be important in this toxicity and proposed mechanisms include interference with ovarian apoptosis and gonadotrophin signaling. This review addresses the most recent scientific findings regarding the possible mechanisms of galactose-induced ovarian toxicity and also the possible protective role of hormonal and antioxidant therapy. In addition, the available epidemiologic and scientific evidence linking galactose intake with risk of ovarian cancer is discussed.

Animals↗