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

Two male subjects are described, with unusual clinical presentations and with hitherto undescribed G6PD variants. The first, of Italian extraction, suffered from severe neonatal jaundice following maternal ingestion of fresh broad beans (Vicia fava) both prenatally and postnatally: the expression of the enzymatic defect was much more severe in the neonatal period than on retesting in adolescence, when biochemical characterization showed unique features which justify designation as a new variant Gd(+) Alexandra. The second patient, a boy of Maltese extraction who was found to have bilateral lamellar cataracts at the age of 4 years, was identified as G6PD deficient only as a result of a survey of children of Mediterranean origin with unexplained cataract formation; he has approximately 15% of normal enzyme activity, with another unique combination of biochemical characteristics which has led to its designation as Gd(-) Camperdown. Although this association may be coincidental, it prompts further attention to the possibility that under certain circumstances G6PD deficiency may favor cataract formation. The two cases illustrate the value of characterization of the mutant enzyme whenever unexpected clinical or laboratory results are obtained.
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PMID:Glucose 6-phosphate dehydrogenase variants: Gd (+) Alexandra associated with neonatal jaundice and Gd (-) Camperdown in a young man with lamellar cataracts. 2 2

The G6PD activity of erythrocytes in 113 male patients with senile and presenile cataract and 86 controls, and G6PD activity of lens in 30 patients with senile cataract and 42 controls were reported. The cataractous group had higher frequency of G6PD deficiency and lower average G6PD level in erythrocytes and lenses, but without statistical significance. The frequency of G6PD deficiency of erythrocytes in presenile cataractous group was higher than that of senile cataractous group but with no statistical significance too. However, the average G6PD level of erythrocytes in presenile cataractous group was lower than that of senile cataractous group and with statistical significance (P < 0.05). The G6PD activity of lenses only presenile in the cortex and have a positive correlation with that of erythrocytes. There was a case with deficiency of G6PD both of erythrocytes and cataractous lenses in both eyes. The results indicate that the deficiency of G6PD might be one of the cataractous pathogenetic factor for presenile cataract. Measurement of G6PD activity of erythrocytes among population might be of significance in finding the risk factor for cataract.
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PMID:The study of G6PD in erythrocyte and lens in senile and presenile cataract. 128 74

Glucose 6-phosphate dehydrogenase (G6PD) activity was measured in both red blood cells and lenses of persons with cataracts living in Cukurova, the southern part of Turkey, where G6PD deficiency is well documented. The incidence of red blood cell G6PD deficiency among the patients with cataract (33.3%) was significantly higher than that in individuals with clear lenses (8.2%). The incidence of lens G6PD deficiency in a total of 52 patients with cataract was 52%. Of the lens G6PD-deficient cases, 46.2 and 28.6% of female and male patients, respectively, also showed red blood cell G6PD deficiency.
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PMID:Glucose 6-phosphate dehydrogenase deficiency both in red blood cells and lenses of the normal and cataractous native population of Cukurova, the southern part of Turkey. Part I. 278 54

A possible correlation between development of cataract and glucose 6-phosphate dehydrogenase (G6PD) deficiency in red blood cells and lenses was investigated. The distribution of cataract types in both G6PD-positive and G6PD-deficient patients, the incidence of G6PD deficiency in cortical cataract groups and the distribution of G6PD-deficient cases according to age were determined. The results showed that quite a high percentage of cortical cataractous patients had G6PD deficiency in both red blood cells and lenses.
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PMID:Glucose 6-phosphate dehydrogenase deficiency both in red blood cells and lenses of the normal and cataractous native population of Cukurova, the southern part of Turkey. Part II. 278 55

The incidence of G6PD deficiency in red blood cells of 241 Sicilian cataractous patients (138 males and 103 females) and in the lens of 32 subjects (15 males and 17 females) of the same group was evaluated. The incidence of G6PD deficiency was significantly higher than expected (p less than 0.001), both in RBCs and in lens. The results suggest that G6PD deficiency is a risk factor for cataract both in hemizygous males and heterozygous females.
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PMID:Glucose-6-phosphate dehydrogenase deficiency and incidence of cataract in Sicily. 406 80

The Italian island of Sardina occupies an important position on the map of glucose-6-phosphate dehydrogenase (G6PD)-deficiency distribution throughout the world, since in this region the condition is particularly frequent and severe (erythrocytes show only 0-7% of G6PD normal activity, while people result affect up to 35% depending on the district). In order to investigate the relationship between the deficiency of G6PD in erythrocytes and in lens, and cataractogenesis, we studied 2125 idiopathic cataractous and non-cataractous subjects, both G6PD-deficient and normal, males and females. Parameters investigated included incidence, distribution and type of cataracts, age at the moment of the first observation, geographical provenance, and G6PD activity in erythrocytes. Moreover, G6PD activity and glutathione (GSSG)-reducing activity was assessed in cataractous lenses obtained from deficient and normal individuals. G6PD deficiency was found to be significantly more frequent in males of the age-group 40-49 years (P = 0.025), while the frequency of G6PD deficiency was decisively lower in the older age-groups. In females, mainly heterozygotes, no evidence of such a relation was found. Cataractous lenses obtained from male patients with no G6PD activity in erythrocytes showed undetectable levels of G6PD activity, and lowered, but not extinguished, levels of GSSG-reducing activity. Cataractous lenses from heterozygous females showed intermediate levels of G6PD activity and GSSG-reducing activity. A preliminary study of 182 diabetic, G6PD-deficient and non-deficient subjects, failed to demonstrate that Sardinian variants of G6PD deficiency provide protection against cataract formation in diabetic patients.
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PMID:The relationship between glucose-6-phosphate dehydrogenase deficiency and cataracts in Sardinia. An epidemiological and biochemical study. 633 98

Steroids that inhibit glucose-6-phosphate dehydrogenase (G6PD) were used to examine the correlation between the loss of GSSG-reducing activity and G6PD deficiency in the lens. The correlation was found to be nonlinear. In senile cataracts, which had lost 36% of NADPH-generating activity as compared to clear lenses, the estimated loss of GSSG reduction was only 20%. On the other hand, lenses with severe G6PD deficiency (i.e. 93% loss) retained at least 28% GSSG-reducing activity. The declined reducing activity, however, suggested a possible role of G6PD deficiency in cataract formation in young patients.
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PMID:GSSG-reducing activity in lenses deficient in glucose-6-phosphate dehydrogenase. 662 60

G6PD deficiency may render afflicted individuals more susceptible to certain degenerative diseases. To clarify the relationship between G6PD deficiency and cataract, blood G6PD activity was determined in patients with cataract in Taiwan. The cases and hospital-based controls were recruited from the medical outpatient department and from the physical checkup department at Chang Gung Memorial Hospital, respectively. A questionnaire survey was used to determine associations between cataracts and their risk factors. G6PD activity in fresh RBC was quantitatively measured and genomic DNA was extracted from lymphocyte nuclei. The mean blood G6PD activity among cataract patients (278.1 U/10[12] RBC) was similar to that of normals (288.0 U/10[12] RBC). No statistically significant difference in the distribution of G6PD activities as grouped by an increment of 100 U/[10, 12] RBC was observed between cataract patients and normal subjects. The predominant forms of G6PD gene mutation (cDNA 1376 G to T and 95 A to G) were both found in the patients with cataract. The adjusted odds ratio for cataract was 1.21 for every decrement of 100 U/10[12] RBC of G6PD activity in these subjects. These data indicate that G6PD activity is not a potential risk factor for senile cataract in Taiwan.
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PMID:Decreased glucose-6-phosphate-dehydrogenase (G6PD) activity and risk of senile cataract in Taiwan. 1658 14

Purpose: Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly in Western Countries. Evidence indicates that Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency, a common genetic abnormality, may protect against ischemic heart and cerebrovascular disease, ocular vascular disorders, and colorectal cancer. This study was undertaken to ascertain whether G6PD deficiency may protect against AMD. Materials and Methods: 79 men with late-stage AMD and 79 male, age-matched cataract controls without AMD were recruited in March-December 2016. Smoking status, clinical history, and drug use were recorded. A blood sample was taken from each participant. Complete blood count, hemoglobin, glucose, creatinine, cholesterol, triglycerides, transaminases, bilirubin, and erythrocyte G6PD activity were measured. Stepwise logistic regression was used to investigate the association between G6PD deficiency and AMD. Results: G6PD deficiency was found in 7 (8.9%) AMD patients and 8 (10.1%) controls, a not statistically significant difference. Stepwise logistic regression disclosed that AMD was significantly associated with increased diastolic blood pressure (OR=1.09, 95% CI=1.03-1.15, P=0.02) and LDL-cholesterol (OR=1.02, 95% CI=1.0001-1.03, P=0.049) and lower values of white blood cell (WBC) count (OR=0.71, 95% CI=0.56-0.88, P=0.02) and aspartate aminotransferase (AST) (OR=0.92, 95% CI=0.85-0.99, P=0.044). Conclusion: Results suggest that G6PD deficiency has no protective effect on nor is a risk factor for AMD. Larger studies are necessary to confirm whether increased diastolic blood pressure and LDL-cholesterol and lower values of WBC count and AST are risk factors for AMD.
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PMID:Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency and Late-stage Age-Related Macular Degeneration. 3121 28