Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In the lens, disorders of the metabolism occur, and, with them, active permeability (the cation pump with uptake of K and release of Na) changes to passive permeability and consequently Na ions enter with water. As a result, the lens increases in weight and a subcapsular (permeability) cataract develops. It is shown that the cattle lens in vitro increases in weight the lower the pH (6.5 greater than 7.5 greater than 8.5) of the surrounding fluid becomes. In a further experiment, 1 ml of buffered liquids with different pH were injected into the anterior chamber of the eyes of freshly slaughtered cattle. Here, too, the mechanically undamaged, untouched lens increased in weight more greatly as the pH (5.5 greater than 6.5 greater than 7.5 greater than 8.5) of the injected fluid was lowered. The significance of the lowering of the pH, e.g., in local inflammation (iritis, cyclitis, retinitis, etc.) or general acidoses (diabetes mellitus, galactosemia, hunger, extracorporeal circulation for atrophic kidney. Albright-, Love-, Fanconi-syndrome) for the appearance of incipient subcapsular clouding of the lens is pointed out.
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PMID:[Lens changes occuring as a result of lowered pH (acidosis) (author's transl)]. 1 65

Report of a case of galactosemia due to galactokinase deficiency. The author recalls the clinical (opacity of the lens) and biological features (important galactosuria, gallactiloluria, normal aminoaciduria, minimal hyperglycemia following galactose load). Since symptoms of increased intracranial pressure were present in this case, as in another one previously described, the commonly accepted statement that cataract is the only lesion in galactokinase deficiency must be reconsidered.
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PMID:[Cataract due to galactokinase deficiency in a premature infant]. 18 81

Clinical and biochemical diagnostic studies concerned 17 cases of galactosemia coming from 15 not consauguineous families. Galactosemia was diagnosed between 1-st day and 11-th month of life. Tentative diagnosis based on clinical picture was made in 12 infants, others were detected through family history of galactosemia and/or biochemical newborn screening carried out at the National Research Institute of Mother and Child since 1969. Clinical symptoms of galactosemia occurred in most patients in the first week of life. They were the following (tab. II): hepatomegaly (in 94%), jaundice (81%), splenomegaly (79%), vomitus (62%) and diarrhoea in 56% of patients. Cataract was found in 6 infants (38%). Biochemical diagnosis was based on the results of enzymatic estimation of galactose-1-phosphate uridyl transferase activity in blood, galactose-1-phosphate in red blood cells and galactose in blood and urine. No activity of galactose-1-phosphate uridyl transferase was found in all patients, and the concentration of galactose-1-phosphate was higher than 25 mg/100 ml of red blood cells. High galactose level was observed in blood and urine in all patients with typical clinical course of galactosemia. In 2 patients however without clinical symptoms of the disease only trace amounts of galactose was detected in blood and urine. All these patients were treated with galactose free diet.
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PMID:[Clinical and biochemical diagnosis of galactosemia among our cases]. 26 27

Oral administration of quercitrin, an inhibitor of aldose reductase, leads to a significant decrease in the accumulation of sorbitol in the lens of diabetic Octodon degus. The onset of cataract is effectively delayed when quercitrin is continuously administered. Thus in these diabetic animals, as in galactosemic rats, the use of an effective aldose reductase inhibitor impedes the course of cataract development. These observations support the hypothesis that in diabetes, as in galactosemia, aldose reductase plays a key role in initiating the formation of lens opacity.
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PMID:Diabetic cataracts and flavonoids. 40 44

In 1966, Thalhammer foundet "The Austrian Newborn Screening Program." Since 1969, we have examined 18 infants with galactosemia at 6 month to 8 year intervals. Even dense lens opacities often disappear with the correct dietary adjustment; progression of the cataract indicates failure to adhere to the prescribed diet.
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PMID:[Ophthalmologic follow-up examination in galactosemia (author's transl)]. 56 43

It was established earlier that the maintenance of rats on a galactose-rich diet induced in rat liver a sequental induction of enzymes, converting galactose to glucose (galactokinase, galactoso-1-phosphaturidytransferase and uridyndiphosphogalactose-4-epimerase); this was followed by the repression of these enzymes. Against the background of the enzyme repression, the continuation of galactose treatment leads to the development of galactosemia symptoms; cataracts, liver lesions growth retardation. Animals with the increased susceptibility to galactose were found in population of Wistar rats; in these animals rapidly developing enzyme induction is followed by sharp repression of enzymes of the galactose metabolism and in them cataracts appear 17-19 days after the start of feeding a galactose-rich diet. A part of the population is resistant to the galactosemic effect of galactose and in these animals cataracts develope only 40-44 days after the beginning of the galactose feeding. By inbreeding of individuals extremely susceptible to galactose and those resistant to it, new substrains of rats were obtained. It is found that in the rats of the galactose-susceptible substrain a number of galactosemic features develope spontaneously and that these features are inheritable. Thus, 85% of the animals of the age of 2.5-6 months have cataract, lens opacities and other lens impairments. In the galactose-resistant substrain no cataracts or lens opacities develope and only slight changes of the lens are observed in 15% of the animals. In the susceptible substrain other features characteristic of galactosemia occur: an increase in the size of thymus, spleen and liver. It is established that in 3.5-5 month old rats of the galactose-susceptible substrain the galactoso-1 phosphaturidyltransferase activity in blood hemolysates is 15 times lower than in rats of galactose-resistant substrain, and in liver the activity of this enzyme is 1.4 times lower. The activity of liver galactokinase and uridyldiphosphogalactose-4-epimerase is slightly higher in rats of galactose-susceptible substrain than in galactose-resistant 1.
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PMID:[Development of a rat subline with symptoms of hereditary galactosemia and study of its biochemical characteristics]. 124 Aug 12

Galactosemia due to uridyl-transferase deficiency was detected in 47 patients between 1/1/1967 and 31/12/1988. The condition took a fulminant course in 31 patients and 10 infants in this group died between the 6th and the 18th day of life. The determination of uridyl-transferase in 36 patients confirmed the diagnosis. Exchange blood transfusion was undertaken in 25 infants because of hyperbilirubinemia, septicemia or neurological symptoms. 5 of the 31 children had a cataract. In most cases the lactose-free diet was commenced in the 2nd week of life. 27 patients were followed up with respect to somatic and intellectual development. Gonadal function was investigated in 5 patients; hypergonadotropic hypogonadism was found in the 4 girls.
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PMID:[Long-term results in children with classical galactosemia]. 141 10

The regular or common appearance of galactose into the sangvin medium because of the great consumption of galactose for the common subjects and especially for the alcoholics, and the temperate consumption for the persons having enzymatic deficiencies into their metabolism for lactose and galactose, too; they both might become dangerous. It is discussed about the methods that must be taken early to forestalling the appearance of the cataract and other complicated affection of galactosemia and galactitolemia.
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PMID:[Galactosemia and galactitolemia--ignored pathologies?]. 152 51

133 patients with congenital or idiopathic cataracts were studied (94 patients had ages between 1 month and 14 years; 10 patients had ages between 16 and 50 years and 29 patients did not have an age registry) along with 18 patients with a clinical diagnosis of classic galactosemia. The activity of galactokinase (GALAK) and that of erythrocyte galactose-1-phosphate uridyl transferase (GALT) was measured. There were no individuals with a total deficiency of GALK or GALT. The cataract patients of ages between 1 monthly and 14 years, 3 (3.19%) and 4 (4.25%) showed GALK and GALT levels in the range corresponding to the respective heterozygotes. As compared with the expected incidence of heterozygotes in the general population (0.2% for GALK and 0.8% for GALT) we found a significant rise of individuals with low levels of enzymes for the metabolism of galactose. The possibility that heterozygote galactosemic states contribute a risk factor in the development of cataracts and its therapeutic implications are discussed.
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PMID:[Identification of inborn errors of galactose metabolism in patients with cataracts]. 210

Classical galactosemia due to a deficiency of galactose-1-phosphate-uridyl transferase, is an autosomal recessive disorder of galactose metabolism with an incidence in Ireland of one in 30,000 births. It can result in cataract formation through the accumulation of galactitol within the lens. Seventeen children with transferase deficient galactosemia were studied. Early diagnosis followed by a galactose-free diet and tight biochemical control prevented cataract formation in 13 cases after a mean follow-up of 6.3 years. Cataracts did not regress in all patients commenced on diet by 6 weeks but early treatment prevented progression. The ophthalmologist may play an important role in the monitoring of patients with this disease as the recognition of new lens opacities by slit-lamp biomicroscopy may be the most sensitive initial index of inadequate biochemical control.
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PMID:Ophthalmic findings in classical galactosemia--a screened population. 276 Jul 88


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