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PubMed1979

Plasma insulin, carbohydrate, and free fatty acid changes in newly born infants of diabetic and non-diabetic mothers after loading with glucose, fructose, and galactose.

Changes in the concentration of blood glucose, fructose and galactose and their disappearance rate, concentration of plasma insulin, free fatty acids, blood lactate and pyruvate after intravenous glucose, fructose and galactose loads (1 g/kg) were studied in 23 infants of insulin treated diabetic mothers (IDM). The control group consisted of 42 infants of healthy mothers (IHM). The disappearance rate of these monosaccharides was higher in IDM that in IHM (P less than 0.01). All monosaccharides enhanced plasma insulin levels, but the plasma insulin concentration varied considerably. The highest insulin response with difference between IDM and IHM occurred after loading with glucose. Fructose was the least effective insulin stimulator which did not increase glucose levels. All monosaccharides decreased free fatty acid levels. Lactate levels and lactate:pyruvate ratio in IHM were increased after fructose loading. The results of this study suggest that galactose is of some physiological importance for maintaining glucose levels and that the islet apparatus of newborns of diabetic mothers is less loaded with galactose than with glucose.

Blood Glucose↗
PubMed1976

[Congenital enzyme deficiency in carbohydrate metabolism. Its significance for clinical pediatrics and human biochemical genetics (author's transl)].

A review of the enzyme deficiencies of carbohydrate metabolism known at the present time is given. Through prominent clinical symptoms and consideration of food as a pathological agent, it is possible to suspect the various diseases before the results of the biochemical determinations are available. On account of the sometimes striking course, therapy can consequently be started at the earliest possible moment.

Carbohydrate Metabolism, Inborn Errors↗
PubMed1976

[Screening of newborns for inborn errors of galactose metabolism. Methods and results].

Three inborn errors of galactose metabolism as known today. Only two of them cause illness: the deficiencies of galactokinase and of galactose-l-phosphate uridyltransferase. Both can be detected through mass screening of newborns and are amenable to a simple and successful dietary treatment. Mass screening of newborns for disorders of galactose metabolism can be performed efficiently and inexpensively if it is incorporated in the general newborn screening program.

Biological Assay↗
PubMed1991

[The influence of aging on the development of rat galactosemic cataract].

In order to investigate the effect of age on the rat galactosemic cataract, 3, 6, 12 and 24-week-old rats were fed with a 50% galactose diet. The cataractous lenses were observed by light microscopy, and the amount of galactitol measured. All rats fed with 50% galactose developed cataracts in the equatorial region. However, the morphological and biochemical development of the galactose cataract in old rats was slower than in young rats. These results suggested that older diabetic patients are less likely to develop diabetic cataract than younger patients.

Aging↗
PubMed1976

Ultrastructural features of human galactosaemic fibroblasts: effects of different nutritional environments.

The ultrastructural characteristics of galactosaemic human fibroblasts exposed to media with various sugars were compared. Considerations of known biochemical pathways suggested that cells without the galactokinase enzyme and exposed to galactose would be functionally equivalent to cells in a medium without any sugar source. We found the ultrastructural characteristics of such cells to be consistent with that hypothesis. In addition, we unexpectedly found that homozygous galactosaemic fibroblasts, exposed to medium with glucose as the energy source, showed evidence of degeneration, such as autophagic vacuoles. Degenerative changes were not found in fibroblasts heterozygous for the galactokinase enzyme exposed to glucose. The implications and uses of these findings are discussed.

Autolysis↗
PubMed1978

[Gene frequencies of both forms of galactosaemia in the western Hungarian province of Vas (author's transl)].

The two enzymes of galactose metabolism, namely galactokinase and galactose-1-phosphate uridyltransferase (Gal-1-PUT), were measured in 3653 subjects aged 7 months to 84 years in der to obtain the incidence of the gene deficiency causing galactosaemia in the Western Hungarian province of Vas. To date nothing is known about these frequencies in this particular region. It was of special interest whether these enzyme defects are to be found more frequently in gypsies than in a comparable population of West Hungary. The frequency of homozygous Gal-1-PUT deficiency amounts to 1:23,500; the respective incidence of galactokinase deficiency is 1:64,000. Both enzyme deficiencies in this province are not higher than in other countries. Considerable differences were established in the gene frequencies in individual areas and for various groups of subjects with variations from 1:30,000 to 1: 127,000 for galactokinase deficiency and from 1:5,300 to 1:81,000 for Gal-1-PUT deficiency. Neither gene deficiency occurred more frequently in gypsies than in the general population. This study demonstrates that the results of such analyses are relevant only to the investigated region and the greatest possible number of subjects must be taken in order to draw reliable conclusions.

Adolescent↗
PubMed1990

Neonatal screening for inborn errors of metabolism: update.

Newborn screening for inborn errors of metabolism is an established practice that has shown its value in preventing the morbidity, mortality, and mental retardation that ravage the child suffering from an inherited disorder of intermediary metabolism. The American Academy of Pediatrics has taken a strong stand supporting newborn screening for PKU and hypothyroidism for all newborns and has repeatedly stressed the need for such screening to be part of an integrated program that incorporates screening, diagnosis, management, and support. As we enter the 21st century, the challenges of maintaining excellence in existing programs, developing new screening tests, and assuring optimal follow-up and management must be met for all children.

Congenital Hypothyroidism↗
PubMed1990

Red blood cells and serum antioxidant defense systems of galactosaemic children.

Many reports have pointed out that oxidative damage and disturbances in antioxidant defense systems of the lenses may play an important role in the development of cataract. In the present study the activities of glutathione peroxidase, glutathione reductase, glutathione-S-transferase, glucose-6-phosphate dehydrogenase, catalase and the level of glutathione and lipid peroxides were measured in red blood cells of galactosaemic children with cataract and without cataract. Furthermore the serum antioxidant activity and the level of uric acid. ceruloplasmin and transferrin in serum were estimated. It was found that in red blood cells of galactosaemic children with cataract the activity of glutathione reductase was slightly lower than in a control age-matched group of children and in galactosaemic children without cataract. The increase of serum antioxidant activity in both groups of galactosaemic children was also observed. Probably it could be due to the increase of the level of ceruloplasmin. Except glutathione reductase activity no other differences were found in the investigated components of the antioxidant defense systems of red blood cells and serum between galactosaemic children with cataract and those without cataract. Therefore it seems that red blood cells and serum metabolism are no good reflections of disturbances in antioxidant defense mechanisms which may be involved in the cataract development in galactosaemic children.

Antioxidants↗
PubMed1990

[Metabolic cataract among the children from the Children's Health Center].

The investigations concerned 385 children with a congenital cataract. It was not possible to establish the causes of the condition in 46.5 p.c. of examined children. The set of examinations which was used was sufficient for an explicit determination of the cause of the metabolic part of congenital cataracts. In galactosaemia opacification of the lens appeared in 64 p.c. of cases, in hypofunction of the parathyroids in 17.8 p.c., in hypoglycaemia in 6.6 p.c., in Lowe's syndrome in 100 p.c. of cases.

Cataract↗
PubMedDate not supplied

Preliminary results of UDP galactose pyrophosphorylase in the erythrocytes of healthy persons and in patients with galactosaemia.

Direct chromatographic isolation of UDP galactose and galactose-1-phosphate was used for determination of the activity of UDP galactose pyrophosphorylase in erythrocytes. The activity was determined by measuring the amount of UDP galactose produced from galactose-1-phosphate and uridine triphosphate. In homozygotes with galactosaemia the activity of the enzyme was nearly ten times lower than in controls, so this difference was highly significant statistically (p less than or equal to 0.001) and the respective values were 0.0051 +/- 0.0003 and 0.0418 +/- 0.0038 mumol of UDP galactose formed during 1 hour by 1 ml of erythrocytes (300 mg of haemoglobin). In heterozygotes with galactosaemia the activity of the enzyme had intermediate values between those in homozygotes and healthy controls.

Adolescent↗