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PubMed1975

Prospective comparison of indirect methods for detecting lactase deficiency.

To compare sensitivity, specificity and convenience, four indirect methods of detecting lactase deficiency were tested prospectively in 25 subjects with biopsy-proved lactase deficiency and in 25 with normal lactase activity. After ingestion of 50 g of lactose, containing 1-14Clactose, breath hydrogen was abnormally elevated in all 25 lactase-deficient subjects (greater than 0.30 ml per minute at two hours); breath 14CO2 was below the normal range in 23, and in 19 the plasma glucose increased by less than 20 mg per deciliter. When lactose and ethanol were given together, the rise in plasma galactose remained less than 5 mg per deciliter in 24 of the lactase-deficient subjects. The specificity of the four tests was excellent, with only one false-positive plasma glucose test. Measurement of breath hydrogen is sensitive and specific, and does not require ethanol or isotopes. It is noninvasive, and is not influenced by gastric emptying or metabolic factors. We believe it to be the most suitable test for population screening for lactase deficiency.

Adult↗
PubMed1995

Demonstration that polyol accumulation is responsible for diabetic cataract by the use of transgenic mice expressing the aldose reductase gene in the lens.

Aldose reductase (AR) has been implicated in the etiology of diabetic cataract, as well as in other complications. However, the role of AR in these complications remains controversial because the strongest supporting evidence is drawn from the use of AR inhibitors for which specificity in vivo cannot be ascertained. To settle this issue we developed transgenic mice that overexpress AR in their lens epithelial cells and found that they become susceptible to the development of diabetic and galactose cataracts. When the sorbitol dehydrogenase-deficient mutation is also present in these transgenic mice, greater accumulation of sorbitol and further acceleration of diabetic cataract develop. These genetic studies demonstrated convincingly that accumulation of polyols from the reduction of hexose by AR leads to the formation of sugar cataracts.

Aldehyde Reductase↗
PubMed1995

Effects of three microbial probiotics on postprandial porto-arterial concentration differences of glucose, galactose and amino-nitrogen in the young pig.

Postprandial kinetics of porto-arterial concentration differences of glucose (G), galactose (Gal), L-lactic acid (LA) and amino-N (AN) were studied in the piglet after the ingestion of 10(7) colony-forming units (cfu) Sporolactobacillus P44 (SP), or 10(6) cfu Bacillus cereus IP5832 (AC), or 10(6) cfu of a combination of Lactobacillus acidophilus, L. fermentum and L. brevis (AB)/g feed. Sixteen fistulated piglets (portal vein and brachiocephalic trunk; mean body weight 22 (SD 2) kg) were used. The diet was based on skimmed milk (320 g/kg), barley (300 g/kg), wheat bran (110 g/kg), maize (100 g/kg) and lactose (70 g/kg). The postprandial blood kinetics, four measurements per animal at 1-week intervals, were studied for 6 h after the ingestion of test meals of 400 g basal diet (BD) or this diet supplemented with the bacteria (SP, AC and AB respectively). Areas of porto-arterial concentration differences (APACD) of G, Gal and LA were not influenced by the bacteria supplements. APACD of AN was significantly higher after the ingestion of the SP diet than that estimated for BD.

Amino Acids↗
PubMed1985

Species differences of galactose metabolism in erythrocytes.

Galactose metabolism was studied in suspensions of erythrocytes from man, rat, ox and pig at approximate steady-state galactose concentrations from 0.1-6.5 mmol/l. There was no detectable galactose elimination in pig erythrocytes. In the three other species the elimination followed saturation kinetics with the maximal elimination rate, Vmax, being 8.0 mumol . min-1 . l-1 human erythrocytes; 12 mumol X min-1 . l-1 rat erythrocytes; 2.4 mumol . min-1 . l-1 bovine erythrocytes. The half saturation concentration, Km, was about the same in all three species, around 0.2 mmol/l. If similar in vivo, erythrocyte metabolism of galactose is not of major quantitative importance compared to the hepatic metabolism in the species examined.

Animals↗
PubMed2001

Patent ductus venosus does not lead to alimentary galactosaemia in preterm infants.

UNLABELLED: The aim of this study was to investigate if an open ductus venosus representing a portal-caval shunt can lead to transient "alimentary galactosaemia" in preterm infants fed human breast milk. Twenty-six preterm infants (28-34 wk of gestational age) with open ductus venosus were included. Capillary blood samples for measurement of galactose and glucose were collected before, 30 and 50 min after a meal with breast milk (range 12-23 mL/kg). Ultrasound studies of the blood flow in the ductus venosus, truncus coeliacus, superior mesenteric artery and left hepatic vein were performed before and 30 min after the meal. There was a significant rise in blood glucose after 30 and 50 min, indicating a sufficient lactose load. Galactose, however, was either not detectable or was just above the detectable limit (0.1-0.4 mmol/L), with no changes after the meal. An increased flow velocity was found in the ductus venosus and superior mesenteric artery after 30 min (p < or = 0.001) indicating increased entero-hepatic and portal-caval shunting. CONCLUSION: A patent ductus venosus does not lead to a significant hypergalactosaemia in preterm infants fed human breast milk. Thus, in respect to breast-milk feeding, this is regarded safe in healthy preterm infants even with an open ductus venosus. The increased portal-caval shunting may, however, influence the hepatic metabolism of other enterally absorbed substances.

Birth Weight↗
PubMed2006

8-hydroxy-2-desoxyguanosine serum concentrations as a marker of DNA damage in patients with classical galactosaemia.

BACKGROUND: Classical galactosaemia is caused by a deficiency of galactose-1-phosphate uridyl transferase, resulting in high galactose (Gal), galactose-1-phosphate (Gal-1-P) and galactitol blood levels. Galactose/lactose restriction intake is the only treatment. 8-hydroxy-2-desoxyguanosine (8-OHdG) is a marker of oxidized DNA damage. AIM: Since galactosaemia outcome is closely related to restriction of Gal intake, we aimed to evaluate correlations between Gal-1-P, total antioxidant status (TAS) and 8-OHdG blood levels in galactosaemic patients on poor or strict diet. METHODS: Venous blood samples were obtained from galactosaemic patients (n = 11) on poor diet (group A) and after 30 d on strict diet (group B). Twenty-eight healthy children were the controls. Gal-1-P and TAS were evaluated in their blood spectrophotometrically and 8-OHdG with an immunoassay. RESULTS: TAS was significantly decreased (905 +/- 112 micromol/l) in patients on a "loose diet" (group A) as compared to those when restored to their diet (group B) (1,340 +/- 112 micromol/l, p < 0.001) and controls (1,558 +/- 115 micromol/l, p < 0.001). As expected, Gal-1-P levels were remarkably increased in group A. 8-OHdG level was twofold higher (0.25 +/- 0.03 ng/ml) in group A than that of group B (0.11 +/- 0.04 ng/ml) and threefold higher than that of the controls (0.08 +/- 0.02 ng/ml). TAS and Gal-1-P inversely correlated to 8-OHdG (r= -0.802, p < 0.001), whereas Gal-1-P positively correlated to 8-OHdG (r = 0.820, p < 0.001) in all the groups. CONCLUSION: a) Low TAS and high Gal-1-P levels are implicated with high 8-OHdG blood levels in galactosaemic patients; b) 8-OHdG may be a sensitive biomarker of DNA damage in patients with classical galactosaemia.

Antibodies, Monoclonal↗
PubMed1998

Clinical features and outcome of eight infants with intrahepatic porto-venous shunts detected in neonatal screening for galactosaemia.

Of 18 newborn infants found to have persistent galactosaemia and without enzyme deficiencies, intrahepatic porto-venous (P-V) shunts were the cause in 8 cases. We retrospectively analysed the clinical and biochemical features of the eight infants. Four patients received prednisolone, one of whom with heart failure owing to arteriovenous shunts also underwent hepatic arterial embolization. The other four patients were merely observed without receiving drug therapy. Regardless of treatment, the P-V shunts disappeared in five infants before the age of 1 y and persisted in three others. All infants showed mild or moderate abnormalities in liver function tests. None exhibited hyperammonemia or neuropsychiatric symptoms related to the shunts. The data indicated that the prognosis of infants with intrahepatic P-V shunts is generally good. In the absence of complications related to the P-V shunts, no treatment other than galactose elimination diet is indicated.

Antineoplastic Agents, Hormonal↗
PubMed1979

Nonenzymatic glycosylation, sulfhydryl oxidation, and aggregation of lens proteins in experimental sugar cataracts.

The formation of sugar-cataracts has been hypothesized to involve the nonenzymatic glycosylation, sulfhydryl oxidation, and aggregation of lens proteins. Cataractous lenses of diabetic and galactosemic rats were analyzed for glycosylated lysine residues in crystallins. A five- and a ten-fold increase in glycosylated lysine residues was measured in galactose and diabetic cataracts, respectively. The modification was predominant in the insoluble fraction of the lens homogenate. The proteins were further examined for the presence of disulfide bonds and high molecular weight aggregates. After careful disruption of the lens in a nitrogen environment, a cloudy solution was obtained from cataractous lenses whereas a clear solution was obtained from normal lenses. The absorbance at 550 nm of the solution of both the galactosemic and the diabetic cataracts could be decreased by approximately 50% with the addition of dithioerythritol (50 mM). The presence of high molecular weight aggregates was ascertained by sucrose gradient centrifugation and gel filtration chromatography. The proteins were heterogenous in size and showed a mol wt range of 36 to greater than 176 million daltons. Treatment with dithioerythritol induced a marked decrease in the amount of high molecular weight proteins. These data suggest that sugar cataracts of experimental animals have, in common with human cataracts, the presence of high molecular weight aggregates which are in part linked by disulfide bonds.

Alloxan↗
PubMed1999

A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

Galactokinase deficiency is an inborn error in the first step of galactose metabolism. Its major clinical manifestation is the development of cataracts in the first weeks of life. It has also been suggested that carriers of the deficiency are predisposed to presenile cataracts developing at age 20-50 years. Newborn screening data suggest that the gene frequency is very low worldwide but is higher among the Roma in Europe. Since the cloning of the galactokinase gene (GK1) in 1995, only two disease-causing mutations, both confined to single families, have been identified. Here we present the results of a study of six affected Romani families from Bulgaria, where index patients with galactokinase deficiency have been detected by the mass screening. Genetic linkage mapping placed the disease locus on 17q, and haplotype analysis revealed a small conserved region of homozygosity. Using radiation hybrid mapping, we have shown that GK1 is located in this region. The founder Romani mutation identified in this study is a single nucleotide substitution in GK1 resulting in the replacement of the conserved proline residue at amino acid position 28 with threonine (P28T). The P28T carrier rate in this endogamous population is approximately 5%, suggesting that the mutation may be an important cause of early childhood blindness in countries with a sizeable Roma minority.

Adolescent↗