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 1,171 records · Page 65Linked to original sources
PubMed1988

Urinary protein excretion rates in experimentally diabetic dogs and experimentally galactosaemic dogs.

The relationship between urinary protein excretion and control of diabetes was evaluated in alloxan-diabetic dogs prospectively assigned to poor, moderate, or good glycaemic control. Protein excretion rate increased with the duration of insulin deficiency, and was significantly greater than normal in the poor control group by the fourth year of diabetes. Appreciable differences in the severity of the proteinuria were observed among animals of the poor and moderate glycaemic control groups; some of the animals excreted in excess of 500 mg protein/24 h while others excreted no more than normal throughout the 5 years of study. Differences in glycaemic control among these insulin-deficient animals seem not sufficient to account for the observed differences in protein excretion. Immunoassay for albumin indicated that the defect resulting in supranormal protein excretion was at least partly glomerular in origin. Good glycaemic control prevented the protein loss from exceeding normal. A potential role of hyperglycaemia in the development of proteinuria was examined in nondiabetic dogs made experimentally hyperglycaemic with galactose. Consumption of a 30% galactose diet for up to 5 years duration had little influence on protein excretion.

Animals↗
PubMed1975

Galactosaemia: estimated live birth incidence in New Zealand.

194 cord blood samples were studied in both a fluorimetric assay and an electrophoresis method for Gal-1-PUT. From this the expected live birth incidence was 1:37000. The New Zealand neonatal screening programme has detected 5 cases in 223326 live births--an apparent incidence of 1:44600. The Beutler testing of dried blood spots collected on filter paper cards is a satisfactory method of detecting galactosaemia in the neonate.

Fetal Blood↗
PubMed1979

Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family.

Enzymatic activity and electrophoretic mobility of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) were assayed in a Mexican family (8 sibs and their parents) with two galactosemic members. Normal, galactosemic and Los Angeles enzyme variants were identified. A survey of the ethnological backgrounds of the individuals reported to date with the Los Angeles variant showed multiple origins that could be explained by an ancient and widespread gene mutation or, more probably, by further biochemical heterogeneity.

Adolescent↗
PubMed1981

14CO2 in breath.

The diagnosis of metabolic disorders can be made by detecting 14CO2 in the breath. This is possible because 14CO2 can label any organic compound without any deteriorations in the nature of the compound. This type of analysis is dependable, noninvasive and simple to perform with a scintillation counter.

Aminopyrine↗
PubMed1987

Cerebral cortical capillary basement membrane thickening in galactosaemic rats.

Wistar-Kyoto rats fed a diet containing 30% by weight galactose for 15-21 months developed significant thickening of the endothelial basement membranes of capillaries from the frontal cortex of the cerebrum, by comparison with cerebral capillary basement membranes from animals on a standard diet (p less than 0.001), or animals receiving a diet containing 30% galactose together with 250 mg/kg diet of the aldose reductase inhibitor, Sorbinil (0.001 less than p less than 0.01). The effect was similar to that which we have reported previously in the retinal capillaries of these animals. Spontaneously hypertensive rats on the high-galactose diet showed modest cerebral capillary basement membrane thickening (0.02 less than p less than 0.05) only for one of the measurement protocols utilised, and the process was not prevented by Sorbinil. Biochemical assays of retina, cerebral cortex, and blood serum from Wistar-Kyoto and spontaneously hypertensive rats maintained on the Sorbinil regimen showed that the drug did cross the blood-retinal and blood-brain barriers. Similar to our previous study on the retinal capillaries, we observed no degeneration of pericyte or endothelial cell cytoplasm, and no alteration in the pericyte/endothelial cell nuclear ratio in the cerebral capillaries of galactosaemic animals, by comparison with controls. Based on immunocytochemical studies in the human retina, it has been claimed that aldose reductase is present in capillary pericytes but absent in the endothelial cells. However, we observe a considerably smaller pericyte/endothelial cell nuclear ratio in the capillaries of the cerebral cortex of the rat, by comparison with those of the retina.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1987

Opposite effects of diabetes and galactosaemia on adenosine triphosphatase activity in rat nervous tissue.

This study measured the ouabain-sensitive adenosine triphosphatase activity in sciatic nerve, lumbar dorsal root ganglia and superior cervical ganglia from control rats, rats with 8 weeks streptozotocin-induced diabetes and rats fed a diet containing 20% galactose for 8 weeks. Whilst the sciatic nerves of the diabetic rats showed a 42% reduction in ouabain-sensitive adenosine triphosphatase activity, the galactose-fed rats showed an increase of 124% (p less than 0.01 and p less than 0.005, respectively, compared to controls). There was also a reduction (by 30% compared to controls; p less than 0.05) in the ouabain-sensitive adenosine triphosphatase activity of the dorsal root ganglia from the diabetic rats, but their superior cervical ganglia did not show a significant fall. The ganglia of the galactosaemic rats showed no change in ouabain-sensitive adenosine triphosphatase activity compared to controls. These changes coexisted with increases in appropriate polyol pathway metabolites in all tissues of both diabetic and galactosaemic rats. There were also depletions of myo-inositol in the sciatic nerves and dorsal root ganglia of diabetic and galactosaemic rats, but their superior cervical ganglia contained levels of myo-inositol which were similar to those of controls. The nerves of the galactosaemic rats showed increased water content; the nerves of the diabetic rats did not. The data argue against a simple relationship between myo-inositol depletion and impaired Na/K adenosine triphosphatase activity in association with exaggerated polyol pathway flux in peripheral nervous tissue.

Adenosine Triphosphatases↗
PubMed1996

Early biosynthetic changes in the diabetic-like retinopathy of galactose-fed rats.

The histological lesions of diabetic micro-angiopathy have a long latency, but vascular cell function may be affected at early stages of the process. Rats with experimental galactosaemia develop a diabetic-like retinopathy in the absence of other metabolic abnormalities characteristic of diabetes mellitus; basement membrane thickening is measurable in their retinal vessels after 7 months of galactose feeding. To examine the course of biosynthetic changes relevant to the process, retinal expression of collagen IV and fibronectin were compared in rats fed a 30% galactose diet or a control diet for 5 or 9 weeks. Total retinal RNA was studied by reverse transcription-polymerase chain reaction; the fibronectin primers encompassed the alternatively spliced EIIIA exon. The levels of alpha 1 (IV) collagen and fibronectin mRNAs were measured relative to an internal standard (beta-actin mRNA). The proportion of EIIIA+ to EIIIA- fibronectin transcripts was similar in the retinas of control and galactose-fed rats, which, however, showed increased levels of both fibronectin and collagen IV mRNAs in the presence of unchanged beta-actin mRNA levels. An upward trend was detected by 5 weeks of galactose feeding; and after 9 weeks the fibronectin/actin ratio was 1.2 +/- 0.3 vs 0.8 +/- 0.2 in controls (p = 0.015) and the collagen IV/actin ratio was 1.3 +/- 0.3 vs 0.9 +/- 0.2 in controls (p = 0.04). Thus, hyperhexosaemia of a few weeks' duration is a perturbation sufficient to increase the synthesis of basement membrane components in the retina. The search for additional early biosynthetic changes should assist in reconstructing the pathogenesis of hexose-induced retinal microangiopathy.

Actins↗
PubMed1986

Progressive cerebellar and extrapyramidal motor disturbances in galactosaemic twins.

Progressive cerebellar and extrapyramidal motor disturbances are described in two 16-year-old female twins with classical galctosaemia. The neurological disturbances, characterized by hyper- and dysmetric movements and bilateral intention tremor with choreatic, atactic and even ballistic motor storms, appeared at 12 years of age. Computerized tomography demonstrates cerebral atrophy in cerebellar, brain stem and basal ganglia structures. The central conduction times, determined by somatosensible evoked potentials, are grossly prolonged; the peripheral nerve conduction velocities are normal. The neurological sequelae described are considered a distinct entity in the course of galactosaemia.

Adolescent↗
PubMed1981

Red cell phosphoglucomutase (PGM)-deficiency: hereditary defect of the PGM1-locus.

Reduced phosphoglucomutase (PGM) activity (approximately 25% of normal) was found in erythrocytes from a healthy newborn infant. The PGM activity was also diminished (approximately 50% of normal) in the erythrocytes of the parents. No PGM1 isoenzymes were found in the erythrocytes of the propositus, as demonstrated by the starch gel electrophoresis. Both parents showed a normal distribution of the PGM1 isoenzymes. We propose a heterozygous state in the parents for a gene determining the activity of the PGM1 isoenzymes and that no activity of the PGM1 isoenzyme could be detected in erythrocytes of the propositus because of his homozygous state. In neonatal screening for galactosaemia red cell PGM deficiency gives false positive results, as does glucose-6-phosphate dehydrogenase deficiency.

Diagnosis, Differential↗
PubMed1982

Effect of sodium concentration and plasma sugar concentration on hexose absorption by the rat jejunum in vivo. Further evidence of two transport mechanisms.

The sodium-dependency of both the saturable and non-saturable components of glucose and galactose absorption across the rat jejunum in vivo has been determined. The non-saturable process appears to be unaffected by sodium removal but when Na+ concentrations in the lumenal fluid are progressively reduced from 143 mM to 0 mM the Jmax for active absorption is greatly decreased. In a separate study these two components of glucose transport were further investigated using intravenous sugar infusion to modify the transepithelial sugar concentration gradient. When identical glucose concentrations were present in plasma and intestinal lumen, the reduction in glucose absorption was fully accounted for by the elimination of the non-saturable component from the overall absorptive process. Together, these observations can be interpreted as further evidence for the existence of at least two absorption processes in vivo. The implication for analysing results from experimental studies of intestinal sugar absorption in vivo is discussed.

Absorption↗
PubMed1993

Impaired hexose uptake by diploid skin fibroblasts from galactosaemic patients. Connection with cell growth and amino acid metabolism, and possible bearing on late-onset clinical symptoms.

In skin fibroblasts of patients presenting with galactosaemia, either from galactose 1-phosphate uridyltransferase or galactokinase deficiency, a deficit in extracellular glucose utilization was observed. This deficit was constant over 3 weeks of continuous cell growth in a medium containing 5.5 mmol/L glucose as the only hexose, and homologous serum. Levels of glucose utilization by deficient skin fibroblasts were stable at about 65-70% of the glucose utilization of control normal skin fibroblasts. Cell morphology was normal, and cell growth was subnormal during this period. However, the energy provision appeared sufficient for cellular needs since cell growth in this glucose medium was observed not to depend on the presence of extracellular glutamine. In contrast, glutamine was required for growth of galactosaemic fibroblasts cultured in medium containing 5.5 mmol/L galactose. If expressed in many cell types, this impaired glucose uptake would be expected seriously to damage highly glucose-dependent tissues such as the central nervous system. This might be of relevance to the persistent neurological damage observed in many galactosaemic patients in spite of their compliance with an early strict galactose-free diet.

Adolescent↗
PubMed1993

The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency.

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.

Adolescent↗