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)

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

In this review, the relationship between lactose and human cataract is examined from the presently available biochemical, metabolic, and epidemiological data. The exceptional cases of homozygous enzyme deficiency being excluded, fragmentary data give reason to believe that a risk of cataract secondary to lactose and galactose ingestion is present in certain subpopulations. In these population groups, the size of which is unknown, the lens could be exposed to intermittent episodes of hypergalactosemia due to the presence of a partial enzyme deficiency in the galactose metabolic pathway, and/or the persistence of a high adult jejunal lactase activity, and/or to a large and repeated consumption of either whole lactose or easily absorbed lactose (hydrolyzed forms and nonpasteurized yogurt).
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PMID:Lactose and cataract in humans: a review. 190 25

The authors performed galactose loading tests in children suffering from chronic diseases: recurrent bronchitis vomiting, diarrhoea, milk-intolerance, somatic and mental retardation, cramps. In 32 of the 92 examined cases galactose levels rose until pathological, pseudo- diabetic levels. Stillbirth, cataract, hyperbilirubinaemia, convulsions occurred among family members of 10 patients. Galactose-1-phosphat-uridyl-transferase levels were decreased only in 4 of the 17 patients examined. In the other cases some different pathway of galactose metabolism is suspected. Complete remission of symptoms was achieved with diet devoid of milk sugar (lactose) in 29 patients: one infant died and two others remained mentally retarded. According to the examinations presented minor deviations of galactose metabolism cause clinical symptoms more frequently in early life as it was supposed until now.
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PMID:[Galactose loading test in infants and small children suffering in recurrent bronchitis and other chronic illness (author's transl)]. 611 85

22% of a group of adult Neapolitans were found to have persistent high lactase activity, and 16% were lactose absorbers as indicated by measurement of breath hydrogen concentration and rise in blood glucose after oral lactose administration. Among adults in the same area with idiopathic senile or presenile cataract 49% were identified as lactose absorbers with the breath hydrogen test and 55% by the rise in blood glucose. These results suggest that adults able to absorb galactose from a lactose-containing diet are especially susceptible to senile or presenile cataract.
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PMID:High frequency of lactose absorbers among adults with idiopathic senile and presenile cataract in a population with a high prevalence of primary adult lactose malabsorption. 614 22

The aqueous penetration of orally administered Ciprofloxacin (CPX) was studied in twenty-two human volunteers undergoing cataract surgery. CPX in a dose of 250 mg, was given p.o. at 12 hourly intervals in 3 groups such that a maximum dose of 0.5 grams was delivered in one group, 1.0 grams in another and 1.5 grams in the last group. A fourth group consisted of 6 individuals who were controls and received lactose tablets. Twelve hours after the last dosing aqueous samples were collected and assayed by the Grove-Randall technique. The aqueous penetration of Ciprofloxacin achieved was 1.51 +/- 0.15 mgL-1 in group II and 2.49 +/- 0.52 mgL-1 in group III. In group I, the aqueous concentration was experimentally indeterminate and the control samples in group IV did not show any antibacterial activity. Divided oral doses of 1.5 grams of CPX were found to produce an aqueous titre up to 2.5 times the MIC of Ps. aeruginosa.
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PMID:Aqueous penetration of orally administered ciprofloxacin in humans. 779 86

Selective adult-type hypolactasia, the main cause of primary malabsorption of lactose, shows considerable variation in terms of its symptoms, which mainly depend on the amount of milk consumption. The article discusses congenital lactase deficiency and familial lactose intolerance. Links between hypolactasia and non-specific abdominal complaints, coronary heart disease and cataract are presented. The decrease in lactase activity in the brush border of jejunal mucosa, associated with diseases of the mucosa or any other condition which damages the enterocytes, is discussed as a cause of secondary hypolactasia. It is shown that adult-type primary hypolactasia and selective lactose malabsorption represent a major problem in the everyday work of general practitioners, particularly in populations where hypolactasia is common. Therefore, the examination and treatment of non-selected patients with vague abdominal complaints is important in primary health care. As the need for calcium in humans is largely met by the intake of milk, the consumption of milk has to be in amounts that are tolerable for the individual.
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PMID:Clinical picture of hypolactasia and lactose intolerance. 804 17

Lactose consumption has been associated with a high incidence of cataract in northern Indian and southern Italian populations. Galactose absorbed after hydrolysis of lactose from milk in individuals with normal lactase activity is considered responsible. However, lactase-deficient subjects who often avoid drinking milk are able to digest lactose and absorb free galactose in fermented milk and yogurt. This study was conducted to evaluate the relationships between milk and yogurt consumption, galactose metabolism and cataract risk. Milk ingestion was dose-related with cataract risk in lactose digesters (particularly in diabetics) but not in lactose maldigesters. Conversely, yogurt intake had a protective dose-effect on cataract formation for the whole population. Maximal galactose concentrations after an oral galactose test increased exponentially with age. Red blood cell galactokinase activity was significantly lower in elderly subjects (> 60 y) than in young individuals (P < 0.05), and galactose-1-phosphate uridyl-transferase activity was significantly lower in institutionalized subjects and in home-living elderly with cataract than in healthy elderly subjects (P < 0.05). We conclude that the cataractogenic action of milk lactose is dependent on the disturbance of galactose metabolism in elderly subjects and that yogurt is not cataractogenic, although the mechanism of the protective effect of yogurt remains unknown.
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PMID:Disturbed galactose metabolism in elderly and diabetic humans is associated with cataract formation. 833 7

Galactokinase (GALK) deficiency is an autosomal recessive disorder, which causes cataract formation in children not maintained on a lactose-free diet. We characterized the human GALK gene by screening a Japanese genomic DNA phage library, and found that several nucleotides in the 5'-untranslated region and introns 1,2, and 5 in our GALK genomic analysis differed from published data. A 20-bp tandem repeat was found in three places in intron 5, which were considered insertion sequences. We identified five novel mutations in seven unrelated Japanese patients with GALK deficiency. There were three missense mutations and two deletions. All three missense mutations (R256W, T344M, and G349S) occurred at CpG dinucleotides, and the T344M and G349S mutations occurred in the conserved region. The three missense mutations led to a drastic reduction in GALK activity when individual mutant cDNAs were expressed in a mammalian cell system. These findings indicated that these missense mutations caused GALK deficiency. The two deletions, of 410delG and 509-510delGT, occurred at the nucleotide repeats GGGGGG and GTGTGT, respectively, and resulted in in-frame nonsense codons at amino acids 163 and 201. These mutations arose by slipped strand mispairing. All five mutations occurred at hot spots in the CpG dinucleotide for missense mutations and in short direct repeats for deletions. These five mutations in Japanese have not yet been identified in Caucasians. We speculate that the origin of GALK mutations in Japanese is different from that in Caucasians.
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PMID:Molecular characterization of galactokinase deficiency in Japanese patients. 1057 Sep 8

One child in a family and two children in another family had galactosemia and congenital cataract. Two of them had total soft cataracts while in one, cataract was less soft. In addition, they had mild lactosuria. The mothers of the affected children had significant lactosuria and mild galactosuria without cataracts. Fathers did not have galactosuria or lactosuria. Clinically unaffected siblings in one family had mild galactosuria and lactosuria. Pregnancy-exaggerated galactosemia was suspected in these two mothers who gave birth to children with congenital cataract. As an extension of this work, 5001 pregnant women were screened for galactose in urine just before the delivery of babies. Mild galactosuria was present in 54 (1.08%). Three children had congenital cataract and one had changes in posterior pole and cornea. Restriction of lactose by reducing intake of milk and milk products during pregnancy by mothers with galactosuria is recommended to avoid the birth of children with congenital cataract.
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PMID:Pregnancy-exaggerated galactosemia and congenital cataracts. 1077 61


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