The Experts below are selected from a list of 279 Experts worldwide ranked by ideXlab platform
Stanton Segal - One of the best experts on this subject based on the ideXlab platform.
-
Urinary Galactonate in Patients with GaLactosemia: Quantitation by Nuclear Magnetic Resonance Spectroscopy
Pediatric research, 1997Co-Authors: Suzanne Wehrli, Michael J Palmieri, Alice T Mazur, Gerard T Berry, Louis J. Elsas, Stanton SegalAbstract:Although numerous reports have appeared showing high levels of galactitol in the urine of patients with gaLactose-1-phosphate uridylyltransferase deficiency, little attention has been paid to measurement of urinary galactonate. Herein we explored the use of 1H and 13C nuclear magnetic resonance, which required only the concentration of urine without derivatization, to detect and quantitate urinary galactonate. We report that transferase deficient infants, as well as adults on gaLactose restricted Diets excrete significant amounts of galactonate, whereas none is detected in the urine of normal subjects. GaLactose-toxic infants were found to excrete large amounts of galactonate, which decreased when the Lactose-Free Diet was instituted. We also found that normal individuals subjected to an oral gaLactose load also excrete high levels of galactonate for at least 4 h after gaLactose ingestion. Our data provide evidence that the first reaction in the oxidative pathway of gaLactose metabolism described in rat liver in 1966 is activated in patients with a variety of gaLactose-1-phosphate uridylyltransferase gene mutations even while on a Lactose-restricted Diet. In both patients and normal individuals, flux through the alternate galactonate pathway appears to be related to the body gaLactose burden.
-
The effect of Dietary fruits and vegetables on urinary galactitol excretion in gaLactose-1-phosphate uridyltransferase deficiency.
Journal of Inherited Metabolic Disease, 1993Co-Authors: Gerard T Berry, Michael J Palmieri, Alice T Mazur, Robert Reynolds, P. B. Acosta, J. A. Henstenburg, K.c. Gross, Stanton SegalAbstract:Even on a Lactose-restricted Diet, urinary galactitol excretion and erythrocyte gaLactose-1-phosphate levels are persistently elevated in patients with gaLactose-1-phosphate uridyltransferase deficiency. In order to determine the contribution of gaLactose in Dietary fruits and vegetables to this phenomenon, (1) the content of gaLactose in a Lactose-Free Diet was directly measured when a galactosaemic patient's Diet was specifically enriched in those fruits and vegetables which contain relatively large amounts of Free gaLactose and (2) galactitol excretion was determined during ingestion of this Diet for 3 weeks and while on a synthetic Diet for 1 week that provided
-
the effect of Dietary fruits and vegetables on urinary galactitol excretion in gaLactose 1 phosphate uridyltransferase deficiency
Journal of Inherited Metabolic Disease, 1993Co-Authors: Gerard T Berry, Michael J Palmieri, Alice T Mazur, Robert Reynolds, P. B. Acosta, J. A. Henstenburg, K.c. Gross, Stanton SegalAbstract:Even on a Lactose-restricted Diet, urinary galactitol excretion and erythrocyte gaLactose-1-phosphate levels are persistently elevated in patients with gaLactose-1-phosphate uridyltransferase deficiency. In order to determine the contribution of gaLactose in Dietary fruits and vegetables to this phenomenon, (1) the content of gaLactose in a Lactose-Free Diet was directly measured when a galactosaemic patient's Diet was specifically enriched in those fruits and vegetables which contain relatively large amounts of Free gaLactose and (2) galactitol excretion was determined during ingestion of this Diet for 3 weeks and while on a synthetic Diet for 1 week that provided <8 mg gaLactose/day. For comparison the effect of a 3-week supplementation of 200 mg gaLactose/day was determined. The measured intake in total foodstuffs matched the theoretical content of gaLactose in the patient's Diet based on amounts in fruits and vegetables alone, thus supporting the concept that fruits and vegetables are primarily responsible for gaLactose intake in a Lactose-Free Diet. All of the Dietary manipulations, however, had relatively little effect on metabolite levels, suggesting that endogenous gaLactose production is primarily responsible for the elevated levels of gaLactose metabolites routinely detected in patients on Lactose-restricted Diets.
Gerard T Berry - One of the best experts on this subject based on the ideXlab platform.
-
Is prenatal myo-inositol deficiency a mechanism of CNS injury in gaLactosemia?
Journal of Inherited Metabolic Disease, 2011Co-Authors: Gerard T BerryAbstract:Classic GaLactosemia due to gaLactose-1-phosphate uridyltransferase (GALT) deficiency is associated with apparent Diet-independent complications including cognitive impairment, learning problems and speech defects. As both gaLactose-1-phosphate and galactitol may be elevated in cord blood erythrocytes and amniotic fluid despite a maternal Lactose-Free Diet, endogenous production of gaLactose may be responsible for the elevated fetal gaLactose metabolites, as well as postnatal CNS complications. A prenatal deficiency of myo-inositol due to an accumulation of both gaLactose-1- phosphate and galactitol may play a role in the production of the postnatal CNS dysfunction. Two independent mechanisms may result in fetal myo-inositol deficiency: competitive inhibition of the inositol monophosphatase1 (IMPA1)-mediated hydrolysis of inositol monophosphate by high gaLactose-1- phosphate levels leading to a sequestration of cellular myo-inositol as inositol monophosphate and galactitol-induced reduction in SMIT1-mediated myo-inositol transport. The subsequent reduction of myo-inositol within fetal brain cells could lead to inositide deficiencies with resultant perturbations in calcium and protein kinase C signaling, the AKT/mTOR/ cell growth and development pathway, cell migration, insulin sensitivity, vescular trafficking, endocytosis and exocytosis, actin cytoskeletal remodeling, nuclear metabolism, mRNA export and nuclear pore complex regulation, phosphatidylinositol-anchored proteins, protein phosphorylation and/or endogenous iron “chelation”. Using a knockout animal model we have shown that a marked deficiency of myo-inositol in utero is lethal but the phenotype can be rescued by supplementing the drinking water of the pregnant mouse. If myo-inositol deficiency is found to exist in the GALT-deficient fetal brain, then the use of myo-inositol to treat the fetus via oral supplementation of the pregnant female may warrant consideration.
-
Urinary Galactonate in Patients with GaLactosemia: Quantitation by Nuclear Magnetic Resonance Spectroscopy
Pediatric research, 1997Co-Authors: Suzanne Wehrli, Michael J Palmieri, Alice T Mazur, Gerard T Berry, Louis J. Elsas, Stanton SegalAbstract:Although numerous reports have appeared showing high levels of galactitol in the urine of patients with gaLactose-1-phosphate uridylyltransferase deficiency, little attention has been paid to measurement of urinary galactonate. Herein we explored the use of 1H and 13C nuclear magnetic resonance, which required only the concentration of urine without derivatization, to detect and quantitate urinary galactonate. We report that transferase deficient infants, as well as adults on gaLactose restricted Diets excrete significant amounts of galactonate, whereas none is detected in the urine of normal subjects. GaLactose-toxic infants were found to excrete large amounts of galactonate, which decreased when the Lactose-Free Diet was instituted. We also found that normal individuals subjected to an oral gaLactose load also excrete high levels of galactonate for at least 4 h after gaLactose ingestion. Our data provide evidence that the first reaction in the oxidative pathway of gaLactose metabolism described in rat liver in 1966 is activated in patients with a variety of gaLactose-1-phosphate uridylyltransferase gene mutations even while on a Lactose-restricted Diet. In both patients and normal individuals, flux through the alternate galactonate pathway appears to be related to the body gaLactose burden.
-
The effect of Dietary fruits and vegetables on urinary galactitol excretion in gaLactose-1-phosphate uridyltransferase deficiency.
Journal of Inherited Metabolic Disease, 1993Co-Authors: Gerard T Berry, Michael J Palmieri, Alice T Mazur, Robert Reynolds, P. B. Acosta, J. A. Henstenburg, K.c. Gross, Stanton SegalAbstract:Even on a Lactose-restricted Diet, urinary galactitol excretion and erythrocyte gaLactose-1-phosphate levels are persistently elevated in patients with gaLactose-1-phosphate uridyltransferase deficiency. In order to determine the contribution of gaLactose in Dietary fruits and vegetables to this phenomenon, (1) the content of gaLactose in a Lactose-Free Diet was directly measured when a galactosaemic patient's Diet was specifically enriched in those fruits and vegetables which contain relatively large amounts of Free gaLactose and (2) galactitol excretion was determined during ingestion of this Diet for 3 weeks and while on a synthetic Diet for 1 week that provided
-
the effect of Dietary fruits and vegetables on urinary galactitol excretion in gaLactose 1 phosphate uridyltransferase deficiency
Journal of Inherited Metabolic Disease, 1993Co-Authors: Gerard T Berry, Michael J Palmieri, Alice T Mazur, Robert Reynolds, P. B. Acosta, J. A. Henstenburg, K.c. Gross, Stanton SegalAbstract:Even on a Lactose-restricted Diet, urinary galactitol excretion and erythrocyte gaLactose-1-phosphate levels are persistently elevated in patients with gaLactose-1-phosphate uridyltransferase deficiency. In order to determine the contribution of gaLactose in Dietary fruits and vegetables to this phenomenon, (1) the content of gaLactose in a Lactose-Free Diet was directly measured when a galactosaemic patient's Diet was specifically enriched in those fruits and vegetables which contain relatively large amounts of Free gaLactose and (2) galactitol excretion was determined during ingestion of this Diet for 3 weeks and while on a synthetic Diet for 1 week that provided <8 mg gaLactose/day. For comparison the effect of a 3-week supplementation of 200 mg gaLactose/day was determined. The measured intake in total foodstuffs matched the theoretical content of gaLactose in the patient's Diet based on amounts in fruits and vegetables alone, thus supporting the concept that fruits and vegetables are primarily responsible for gaLactose intake in a Lactose-Free Diet. All of the Dietary manipulations, however, had relatively little effect on metabolite levels, suggesting that endogenous gaLactose production is primarily responsible for the elevated levels of gaLactose metabolites routinely detected in patients on Lactose-restricted Diets.
Riitta Korpela - One of the best experts on this subject based on the ideXlab platform.
-
Removing Lactose from milk does not delay bowel function or harden stool consistency in Lactose-tolerant women
European Journal of Clinical Nutrition, 2008Co-Authors: S Seppänen, Leena Niittynen, Tuija Poussa, Riitta KorpelaAbstract:Objectives: To investigate whether removing Lactose from milk delays bowel function in Lactose-tolerant women. We also examined how well the participants' subjective evaluation of the stool consistency according to the Bristol Stool Form Scale correlated with values obtained by dry matter analysis and penetrometry. Subjects and methods: A randomized double-blind cross-over trial. Thirty-three Lactose-tolerant women consumed, in random order, 800 ml of Lactose-Free or ordinary milk per day for 2 weeks, with their main meal, but otherwise followed a Lactose-Free Diet. The subjects estimated stool consistency according to the Bristol Stool Form Scale, registered stool frequency and gastrointestinal symptoms and collected stool samples. Results: The mean intake of Lactose was 3.5 and 38.4 g/day during the Lactose-Free and the ordinary milk periods, respectively. There were no statistically significant differences between the Lactose-Free and the ordinary milk periods in stool frequency, gastrointestinal symptoms, stool hardness or faecal dry matter. Faecal pH was lower during the Lactose-Free milk period than in the ordinary milk period. The subjective estimation of stool hardness correlated well with the values obtained by dry matter analysis and penetrometry. Conclusions: Lactose-Free milk does not delay bowel function in Lactose-tolerant women. The Bristol Stool Form Scale is a useful method of evaluating stool hardness.
-
Removing Lactose from milk does not delay bowel function or harden stool consistency in Lactose-tolerant women.
European journal of clinical nutrition, 2007Co-Authors: S Seppänen, Leena Niittynen, Tuija Poussa, Riitta KorpelaAbstract:To investigate whether removing Lactose from milk delays bowel function in Lactose-tolerant women. We also examined how well the participants' subjective evaluation of the stool consistency according to the Bristol Stool Form Scale correlated with values obtained by dry matter analysis and penetrometry. A randomized double-blind cross-over trial. Thirty-three Lactose-tolerant women consumed, in random order, 800 ml of Lactose-Free or ordinary milk per day for 2 weeks, with their main meal, but otherwise followed a Lactose-Free Diet. The subjects estimated stool consistency according to the Bristol Stool Form Scale, registered stool frequency and gastrointestinal symptoms and collected stool samples. The mean intake of Lactose was 3.5 and 38.4 g/day during the Lactose-Free and the ordinary milk periods, respectively. There were no statistically significant differences between the Lactose-Free and the ordinary milk periods in stool frequency, gastrointestinal symptoms, stool hardness or faecal dry matter. Faecal pH was lower during the Lactose-Free milk period than in the ordinary milk period. The subjective estimation of stool hardness correlated well with the values obtained by dry matter analysis and penetrometry. Lactose-Free milk does not delay bowel function in Lactose-tolerant women. The Bristol Stool Form Scale is a useful method of evaluating stool hardness.
-
Tolerance to small amounts of Lactose in Lactose maldigesters.
The American journal of clinical nutrition, 1996Co-Authors: Tuula Vesa, Riitta Korpela, Timo SahiAbstract:In this study we examined whether small doses of Lactose induced symptoms in 39 Lactose maldigesters and 15 Lactose digesters in a randomized, crossover, double-blind design. The test doses were 200 mL fat-Free, Lactose-Free milk to which 0, 0.5, 1.5, and 7 g Lactose was added. Every third day of a Lactose-Free Diet, after an overnight fast, the subjects drank one of the test milks in random order and registered the occurrence and severity of gastrointestinal symptoms in the next 12 h. During the study, the maldigesters reported significantly more abdominal bloating (P = 0.0003) and abdominal pain (P = 0.006) than the digesters. There was no difference in the mean severity of the reported symptoms between the test milks and the Lactose-Free milk in the group of Lactose maldigesters, of whom one-third did not experience any symptoms from any of the test doses. The same proportion (64%) of the maldigesters experienced symptoms after both the Lactose-Free milk and the milk with 7 g Lactose. However, the symptoms occurred inconsistently with the different test doses in 59% of the maldigesters. Thus, it can be concluded that the gastrointestinal symptoms in most Lactose maldigesters are not induced by Lactose when small amounts (0.5-7.0 g) of Lactose are included in the Diet.
Michael J Palmieri - One of the best experts on this subject based on the ideXlab platform.
-
Urinary Galactonate in Patients with GaLactosemia: Quantitation by Nuclear Magnetic Resonance Spectroscopy
Pediatric research, 1997Co-Authors: Suzanne Wehrli, Michael J Palmieri, Alice T Mazur, Gerard T Berry, Louis J. Elsas, Stanton SegalAbstract:Although numerous reports have appeared showing high levels of galactitol in the urine of patients with gaLactose-1-phosphate uridylyltransferase deficiency, little attention has been paid to measurement of urinary galactonate. Herein we explored the use of 1H and 13C nuclear magnetic resonance, which required only the concentration of urine without derivatization, to detect and quantitate urinary galactonate. We report that transferase deficient infants, as well as adults on gaLactose restricted Diets excrete significant amounts of galactonate, whereas none is detected in the urine of normal subjects. GaLactose-toxic infants were found to excrete large amounts of galactonate, which decreased when the Lactose-Free Diet was instituted. We also found that normal individuals subjected to an oral gaLactose load also excrete high levels of galactonate for at least 4 h after gaLactose ingestion. Our data provide evidence that the first reaction in the oxidative pathway of gaLactose metabolism described in rat liver in 1966 is activated in patients with a variety of gaLactose-1-phosphate uridylyltransferase gene mutations even while on a Lactose-restricted Diet. In both patients and normal individuals, flux through the alternate galactonate pathway appears to be related to the body gaLactose burden.
-
The effect of Dietary fruits and vegetables on urinary galactitol excretion in gaLactose-1-phosphate uridyltransferase deficiency.
Journal of Inherited Metabolic Disease, 1993Co-Authors: Gerard T Berry, Michael J Palmieri, Alice T Mazur, Robert Reynolds, P. B. Acosta, J. A. Henstenburg, K.c. Gross, Stanton SegalAbstract:Even on a Lactose-restricted Diet, urinary galactitol excretion and erythrocyte gaLactose-1-phosphate levels are persistently elevated in patients with gaLactose-1-phosphate uridyltransferase deficiency. In order to determine the contribution of gaLactose in Dietary fruits and vegetables to this phenomenon, (1) the content of gaLactose in a Lactose-Free Diet was directly measured when a galactosaemic patient's Diet was specifically enriched in those fruits and vegetables which contain relatively large amounts of Free gaLactose and (2) galactitol excretion was determined during ingestion of this Diet for 3 weeks and while on a synthetic Diet for 1 week that provided
-
the effect of Dietary fruits and vegetables on urinary galactitol excretion in gaLactose 1 phosphate uridyltransferase deficiency
Journal of Inherited Metabolic Disease, 1993Co-Authors: Gerard T Berry, Michael J Palmieri, Alice T Mazur, Robert Reynolds, P. B. Acosta, J. A. Henstenburg, K.c. Gross, Stanton SegalAbstract:Even on a Lactose-restricted Diet, urinary galactitol excretion and erythrocyte gaLactose-1-phosphate levels are persistently elevated in patients with gaLactose-1-phosphate uridyltransferase deficiency. In order to determine the contribution of gaLactose in Dietary fruits and vegetables to this phenomenon, (1) the content of gaLactose in a Lactose-Free Diet was directly measured when a galactosaemic patient's Diet was specifically enriched in those fruits and vegetables which contain relatively large amounts of Free gaLactose and (2) galactitol excretion was determined during ingestion of this Diet for 3 weeks and while on a synthetic Diet for 1 week that provided <8 mg gaLactose/day. For comparison the effect of a 3-week supplementation of 200 mg gaLactose/day was determined. The measured intake in total foodstuffs matched the theoretical content of gaLactose in the patient's Diet based on amounts in fruits and vegetables alone, thus supporting the concept that fruits and vegetables are primarily responsible for gaLactose intake in a Lactose-Free Diet. All of the Dietary manipulations, however, had relatively little effect on metabolite levels, suggesting that endogenous gaLactose production is primarily responsible for the elevated levels of gaLactose metabolites routinely detected in patients on Lactose-restricted Diets.
Alice T Mazur - One of the best experts on this subject based on the ideXlab platform.
-
Urinary Galactonate in Patients with GaLactosemia: Quantitation by Nuclear Magnetic Resonance Spectroscopy
Pediatric research, 1997Co-Authors: Suzanne Wehrli, Michael J Palmieri, Alice T Mazur, Gerard T Berry, Louis J. Elsas, Stanton SegalAbstract:Although numerous reports have appeared showing high levels of galactitol in the urine of patients with gaLactose-1-phosphate uridylyltransferase deficiency, little attention has been paid to measurement of urinary galactonate. Herein we explored the use of 1H and 13C nuclear magnetic resonance, which required only the concentration of urine without derivatization, to detect and quantitate urinary galactonate. We report that transferase deficient infants, as well as adults on gaLactose restricted Diets excrete significant amounts of galactonate, whereas none is detected in the urine of normal subjects. GaLactose-toxic infants were found to excrete large amounts of galactonate, which decreased when the Lactose-Free Diet was instituted. We also found that normal individuals subjected to an oral gaLactose load also excrete high levels of galactonate for at least 4 h after gaLactose ingestion. Our data provide evidence that the first reaction in the oxidative pathway of gaLactose metabolism described in rat liver in 1966 is activated in patients with a variety of gaLactose-1-phosphate uridylyltransferase gene mutations even while on a Lactose-restricted Diet. In both patients and normal individuals, flux through the alternate galactonate pathway appears to be related to the body gaLactose burden.
-
The effect of Dietary fruits and vegetables on urinary galactitol excretion in gaLactose-1-phosphate uridyltransferase deficiency.
Journal of Inherited Metabolic Disease, 1993Co-Authors: Gerard T Berry, Michael J Palmieri, Alice T Mazur, Robert Reynolds, P. B. Acosta, J. A. Henstenburg, K.c. Gross, Stanton SegalAbstract:Even on a Lactose-restricted Diet, urinary galactitol excretion and erythrocyte gaLactose-1-phosphate levels are persistently elevated in patients with gaLactose-1-phosphate uridyltransferase deficiency. In order to determine the contribution of gaLactose in Dietary fruits and vegetables to this phenomenon, (1) the content of gaLactose in a Lactose-Free Diet was directly measured when a galactosaemic patient's Diet was specifically enriched in those fruits and vegetables which contain relatively large amounts of Free gaLactose and (2) galactitol excretion was determined during ingestion of this Diet for 3 weeks and while on a synthetic Diet for 1 week that provided
-
the effect of Dietary fruits and vegetables on urinary galactitol excretion in gaLactose 1 phosphate uridyltransferase deficiency
Journal of Inherited Metabolic Disease, 1993Co-Authors: Gerard T Berry, Michael J Palmieri, Alice T Mazur, Robert Reynolds, P. B. Acosta, J. A. Henstenburg, K.c. Gross, Stanton SegalAbstract:Even on a Lactose-restricted Diet, urinary galactitol excretion and erythrocyte gaLactose-1-phosphate levels are persistently elevated in patients with gaLactose-1-phosphate uridyltransferase deficiency. In order to determine the contribution of gaLactose in Dietary fruits and vegetables to this phenomenon, (1) the content of gaLactose in a Lactose-Free Diet was directly measured when a galactosaemic patient's Diet was specifically enriched in those fruits and vegetables which contain relatively large amounts of Free gaLactose and (2) galactitol excretion was determined during ingestion of this Diet for 3 weeks and while on a synthetic Diet for 1 week that provided <8 mg gaLactose/day. For comparison the effect of a 3-week supplementation of 200 mg gaLactose/day was determined. The measured intake in total foodstuffs matched the theoretical content of gaLactose in the patient's Diet based on amounts in fruits and vegetables alone, thus supporting the concept that fruits and vegetables are primarily responsible for gaLactose intake in a Lactose-Free Diet. All of the Dietary manipulations, however, had relatively little effect on metabolite levels, suggesting that endogenous gaLactose production is primarily responsible for the elevated levels of gaLactose metabolites routinely detected in patients on Lactose-restricted Diets.
