Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “GALACTOSEMIA”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,531 records · Page 85Linked to original sources
PubMed1981

Endoneurial fluid pressure in experimental models of diabetic neuropathy.

The sorbitol pathway has been suggested as a biochemical mechanism for peripheral neuropathy in diabetes, due to accumulation of osmotically active polyols which cause endoneurial edema. The purpose of this study was to compare endoneurial fluid pressure (EFP) in the peripheral nerves of rats in three experimental models: streptozotocin diabetes, galactose neuropathy, and sucrose intoxication. Endoneurial fluid pressure was measured in 27 diabetic rats at intervals of 4 to 51 weeks after inoculation with streptozotocin and in ten control rats. Elevated fluid pressure was observed in only two diabetic animals, and there was no significant difference in mean EFP between test animals and controls. By contrast, elevated EFP was found in 9 of 11 rats who received a 68% sucrose diet for 48-51 weeks. The mean EFP in these animals was approximately twice normal, and sucrose intoxication thus appears to be a more effective model than streptozotocin diabetes for nerve edema associated with the sorbitol pathway.

Animals↗
PubMedDate not supplied

Galactose inhibition of neonatal neutrophil function.

To investigate possible causes for the significantly increased incidence of sepsis observed in galactosemic neonates, the in vitro effect of galactose on neutrophil function in healthy newborns was studied. Neutrophils from 25 normal newborns and 23 normal adult volunteers were incubated with 100 mg of glucose per dl, 300 mg of galactose per dl and 300 mg of galactose plus 100 mg of glucose per dl, respectively. Tests for neutrophil function included chemiluminescence (CL), chemotaxis (CTX) and adherence. Neutrophil CL (measure of bactericidal activity) was significantly depressed by galactose in both adults (30.2%) and newborns (59.5%); however, neonatal neutrophil function (CL) was depressed to a much greater extent than in adults. CTX was also significantly depressed by galactose in newborns but not in adults. Supplementing the galactose-containing medium with glucose restored both CL and CTX function to normal in adults. However, only CTX was restored in newborns, while CL remained markedly depressed. Neutrophil adhesion, a function which is not energy-dependent, was not affected by galactose in both adults and newborns. These findings indicate that depressed neutrophil function by galactose or its metabolites may contribute to the high incidence of sepsis in galactosemic neonates.

Adult↗
PubMed1986

Newborn metabolic screening: a search for "nature's experiments".

The rationale for metabolic screening includes discovery of new diseases, development of treatment methods, determination of the true incidence of disease in order to provide genetic counseling, and relief to the taxpayer when retardation is preventable. The number of diseases for which we can now screen is large and growing and must be periodically reviewed. Physical, cultural, and religious factors affect gene pool mixing, making it impossible to predict a priori what the incidence of a given disorder will be within the population screened. This paper reviews the rationale for establishing neonatal metabolic screening programs and the significance of the information gained.

Biopterins↗
PubMed1997

Application of immunoapheresis for delaying hyperacute rejection during isolated xenogeneic pig liver perfusion.

BACKGROUND: Extracorporeal liver perfusion in hepatic coma, used to eliminate toxic metabolites causing hepatic encephalopathy, is limited by the antibody (Ab) and complement-mediated hyperacute rejection of discordant xenografts. Thus, the efficacy of highly selective immunoadsorption columns to deplete xenoreactive human anti-porcine antibodies before ex vivo liver perfusion was examined in this study. METHODS: Eighteen domestic pigs were hepatectomized according to standard techniques. The livers were ex vivo perfused for 4 hr. The perfusion protocol closely followed the physiological conditions of a human liver. Parameters of liver function and damage were analyzed. Three groups were formed differing in the treatment of the perfusate. As basic control, livers were perfused with heparinized human blood (group 1; n=6). Immunoapheresis was applied in group 3 (n=6). Immunoapheresis was performed using Ig Therasorb columns consisting of sheep-anti-human IgG Abs covalently coupled to Sepharose CL-4B. Additionally, the effect of pure Sepharose CL-4B without immobilized Ab was tested in group 2 (n=6). RESULTS: The use of Ig Therasorb 100 columns in group 3 resulted in a reduction of IgG, IgM, and IgA in the order of 95.0%, 72.3%, and 81.5%, respectively. In group 2, IgG, IgM, and IgA were lowered by 30% to 39%. Determination of liver-specific enzymes and tolerance tests revealed a significant reduction of cellular damage and functional restrictions in group 3 compared with the control groups. CONCLUSIONS: Immunoapheresis conducted according to this protocol appears to be an effective approach for delaying antibody-mediated hyperacute xenogeneic rejection.

Acute Disease↗
PubMed1977

Enzymes of galactose metabolism in human hair roots.

Micro-methods, making use of radioactive substrates, are described for the quantitative estimation of galactokinase and galactose-1-phosphate uridyl transferase activities in lysates of hair roots obtained from the human scalp. Enzyme assays can be carried out with fractions of one hair root. Both enzymes have been investigated with regard to stability, pH optimum and Michaelis-Menten constants. Along with similarities there were also certain differences as compared to galactokinase and galactose-1-phosphate uridyl transferase activities in other human tissues. The findings were used to optimise and standardise a radiochemical micro-assay for both enzymes in human hair root lysates, applicable to carrier detection studies in galactosaemia, an inborn error of carbohydrate metabolism. Because they can easily be obtained, hair roots are a very suitable biopsy material for both fundamental and diagnostic investigations of these enzymes.

Clinical Enzyme Tests↗
PubMed1987

Galactose tolerance in patients with atopic cataracts.

Galactosaemia has been suggested as a contributory factor in the pathogenesis of some presenile and senile cataracts. To assess whether galactosaemia plays any part in the development of atopic cataracts a galactose tolerance test was carried out in eight atopic dermatitis patients whose cataracts had appeared between the ages of 12 and 39 years. In seven patients a normal result was obtained and in one the result was just above normal. Impaired galactose tolerance appears to have no role in the pathogenesis of atopic cataract.

Adolescent↗
PubMed1975

Detection of inborn errors of metabolism. IV. Galactokinase deficiency.

Galactokinase deficient fibroblasts are not distinguishable from galactosemic fibroblasts by a test suggested earlier by Hill & Puck (1973). They can be so distinguished by the test described here, since they are unable to incorporate radioactive galactose into TCA-insoluble material under normal conditions of incubation while both galactosemic and normal cells incorporate considerable amounts. The importance of this is discussed in relationship to antenatal screening.

Carbohydrate Metabolism, Inborn Errors↗
PubMed1979

Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus.

We describe our experience in prenatal diagnosis of six foetuses at risk for galactosaemia. In one family the parents were both shown to be double heterozygotes at the galactose 1-phosphate uridyl transferase (Gal-PUT) locus, the mother having a Duarte/Los Angeles and the father a Duarte/galactosaemia genotype. The foetus (and an older brother previously thought to have classical galactosaemia) was also a Duarte/galactosaemia double heterozygote. In the other five families, the parents and three foetuses were heterozygous carriers of the galactosaemia gene, one of the foetuses had galactosaemia, and one was homozygous for the normal gene. It is concluded that by a combination of family studies and assay of cultured amniotic cell Gal-PUT, accurate prediction of the foetal Gal-PUT genotype is now possible.

Alleles↗
PubMedDate not supplied

Normalization of lens protein kinase Cgamma in galactosemic dogs by a novel aldose reductase inhibitor.

The purpose of this study was to determine the effects of a novel aldose reductase inhibitor on lens protein kinase Cgamma (PKCgamma) levels in galactosemic dogs. Six-month old Beagles (12 total; 6 male and 6 female) were made galactosemic by feeding a diet of 40% galactose for 6 weeks. Three dogs per group were fed either control, normal diet, 40% galactose diet, 40% galactose diet with aldose reductase inhibitor at 100 mg/kg body weight per day given orally, or a control diet with aldose reductase inhibitor alone (1-H,7-H-5alpha,6,8,9-tetrahydro-1-oxopyran[4,3-beta](1) benzopyran, referred to herein as HAR-1). Lenses were removed and analyzed for toxicity by pathological examination. Lens polyol concentrations were determined by GC/MS. PKCgamma levels were determined by Western blot and by reverse transcriptase-polymerase chain reaction (RT-PCR). No toxicity was observed from the aldose reductase inhibitor when given at 100 mg/kg body weight per day for 6 weeks. Galactosemic dogs showed deterioration of lens cells. Deterioration included vacuole formation in the lens, cell lysis, and loss of cell nuclei. Galactosemic dogs given the HAR-1 appeared identical to control dogs. Polyol concentrations in the lenses were reduced by 50% in dogs fed the 40% galactose diet with the aldose reductase inhibitor, HAR-1. PKCgamma protein levels were reduced in the galactosemic dog lenses, but synthesis of PKCgamma was not affected, as measured by RT-PCR. The PKCgamma protein levels were similar to controls in dogs given the aldose reductase inhibitor, HAR-1, even when polyol concentrations remained 50% elevated above control levels. HAR-1, when given to control dogs, caused a reduction in the synthesis of PKCgamma mRNA but not in total PKCgamma protein levels. This study demonstrates the use of a novel aldose reductase inhibitor to control changes in PKCgamma in dog lens, a PKC that is known to control gap junction activity.

Acetates↗