==================================BSR02================================== 2. The project is to study the relationship between cataract and defects in galactose metabolism. Two enzymes are involved: galactokinase and galactose-1-phosphate uridyl transferase. The deficiency of either one may lead to cataract development. 1 UI - 87116932 AU - Simonelli F ; De Rosa G ; Rinaldi E ; Auricchio L TI - Possible role of galactose-1-P-uridyl transferase activity deficiency in red blood cells in the development of the presenile and senile cataract. AB - The activity of red blood cells galactose-1-P-uridyl transferase in 64 patients with presenile and senile cataracts (nondiabetics) and in 41 age-matched controls was investigated. All control subjects examined have shown normal enzymatic levels, while 21.9% of patients with presenile cataracts and 21.7% of patients with senile cataracts presented a statistically significant reduced enzymatic activity (mean +/- 2 SD in controls). MH - Adult ; Aged ; Cataract/*ENZYMOLOGY/ETIOLOGY ; Erythrocytes/*ENZYMOLOGY ; Female ; Galactokinase/BLOOD ; Galactosephosphate Uridylyltransferase/ BLOOD/*DEFICIENCY ; Human ; Male ; Middle Age ; Nucleotidyltransferases/ *DEFICIENCY ; Support, Non-U.S. Gov't SO - Ophthalmic Res 1986;18(5):309-12 2 UI - 87056308 AU - Kechrid RM ; Adrian J ; Poiffait A TI - Galactose metabolism in male and female rats. II. Eye-ball differences. AB - When rats consumed a well-balanced diet containing 30% lactose or 30% glucose-galactose mixture, the biological composition of the lens was more disturbed in female: the leak of inositol and the accumulation of galactitol were higher than in the male. MH - Animal ; Aqueous Humor/*METABOLISM ; Cataract/ETIOLOGY ; Dietary Carbohydrates/PHARMACODYNAMICS ; Dulcitol/METABOLISM ; Female ; Galactose/ *METABOLISM/PHARMACODYNAMICS ; Galactosemia/ETIOLOGY ; Glucose/ PHARMACODYNAMICS ; Lactose/PHARMACODYNAMICS ; Lens, Crystalline/ *METABOLISM ; Male ; Rats SO - Int J Vitam Nutr Res 1986;56(3):269-73 3 UI - 86174317 AU - Engerman RL ; Kern TS TI - Hyperglycemia as a cause of diabetic retinopathy. AB - Diabetes mellitus is marked by hyperglycemia and a variety of other metabolic disorders. The significance of hyperglycemia in the pathogenesis of diabetic retinopathy has proven difficult to evaluate in patients. Diabetic dogs are known to develop retinal lesions morphologically identical to those typical of diabetes in man, provided hyperglycemia in the animal is allowed to persist at least for many months and usually for 3 to 5 years. The development of retinopathy in this animal model can be inhibited by careful improvement of diabetic (glycemic) control. Comparable retinopathy has recently been found to develop in nondiabetic dogs as a result of experimental galactosemia of several years' duration. Included in this retinopathy and in the retinopathy of diabetic patients and dogs as well are saccular capillary aneurysms, hemorrhages, nonperfused or acellular vessels, varicose vessels, and loss of capillary pericytes. Retinal capillary basement membrane has been measured (to date) in two dogs that had been galactosemic for 5 years, and it was found to be significantly thicker than in normal dogs (P less than 0.01). Many metabolic abnormalities typical of diabetes are absent from galactosemic dogs. Unlike diabetic dogs, the blood levels of glucose, nonesterified fatty acids, branched-chain amino acids, and fibrinogen are not elevated in the galactosemic dogs, and their serum insulin concentration seems normal. Excessive blood hexose itself appears to be an important determinant of retinopathy. One possible mechanism by which excessive blood hexose might produce retinopathy involves the polyol pathway.(ABSTRACT TRUNCATED AT 250 WORDS) MH - Aldose Reductase/METABOLISM ; Animal ; Basement Membrane/ULTRASTRUCTURE ; Cataract/ETIOLOGY ; Diabetes Mellitus, Experimental/COMPLICATIONS ; Diabetic Retinopathy/*ETIOLOGY/METABOLISM ; Dogs ; Galactose/ PHARMACODYNAMICS ; Galactosemia/COMPLICATIONS ; Hemoglobin A, Glycosylated/ANALYSIS ; Hexoses/BLOOD ; Human ; Hyperglycemia/ *COMPLICATIONS ; Rats ; Retinal Vessels/ULTRASTRUCTURE ; Support, U.S. Gov't, P.H.S. SO - Metabolism 1986 Apr;35(4 Suppl 1):20-3 4 UI - 86147888 AU - Elman MJ ; Miller MT ; Matalon R TI - Galactokinase activity in patients with idiopathic cataracts. AB - Ninety-four consecutive patients admitted for elective cataract surgery were prospectively examined for erythrocyte galactokinase activity. The presumed etiology for the cataract was established by history and physical examination in 51 patients (21 were diabetic). The cataract was classified as idiopathic in 43 patients. Galactokinase activity was significantly lower in idiopathic vs. presumed (nondiabetic) etiology patients 50 years of age or younger (P less than 0.05) and in idiopathic cataract patients 50 years of age or younger vs. those older than 51 years of age (P = 0.0033). Three of the idiopathic cataract patients (6.9%) had galactokinase levels less than two standard deviations below the mean galactokinase level for age-matched patients with suspected (nondiabetic) etiology. Compared with the expected distribution for the heterozygote in the general population (0.2%), this was highly significant (P = 0.0001). Diminished galactokinase activity may increase the risk of developing presenile cataracts requiring surgery by the fourth decade. MH - Adult ; Aged ; Cataract/*ENZYMOLOGY/ETIOLOGY/FAMILIAL & GENETIC ; Diabetes Mellitus/COMPLICATIONS ; Female ; Galactokinase/*METABOLISM ; Heterozygote ; Human ; Male ; Middle Age ; Support, U.S. Gov't, P.H.S. SO - Ophthalmology 1986 Feb;93(2):210-5 5 UI - 86138996 AU - Stambolian D ; Scarpino-Myers V ; Eagle RC Jr ; Hodes B ; Harris H TI - Cataracts in patients heterozygous for galactokinase deficiency. AB - The role of heterozygous galactokinase deficiency in the development of presenile cataracts is presently undetermined. Erythrocyte galactokinase activity was measured from 95 normal Caucasian subjects and from 39 Caucasian patients who had developed idiopathic bilateral cataracts between ages 20 and 55. The diagnosis of heterozygous galactokinase deficiency was based on the following criteria: galactokinase activity more than 2.0 SD below the control population mean; when available, familial evidence for heterozygous galactokinase activity was used as additional evidence. Three of 39 patients (1/13) with cataracts were found to be carriers of the galactokinase deficiency allele (P less than 0.001). Two heterozygotes had high dietary galactose intake suggesting a possible relationship between a high galactose diet and cataract formation. Dietary information was unavailable for the third heterozygote. We conclude that there is a high prevalence of heterozygous galactokinase deficiency existing in patients less than 55 yr of age with cataracts, and recommend that adults at risk restrict their consumption of dairy products. MH - Adolescence ; Adult ; Aged ; Cataract/ETIOLOGY/*FAMILIAL & GENETIC/ METABOLISM ; Diet ; Female ; Galactokinase/*DEFICIENCY ; Galactose ; Heterozygote ; Human ; Male ; Middle Age ; Support, Non-U.S. Gov't ; Support, U.S. Gov't, P.H.S. SO - Invest Ophthalmol Vis Sci 1986 Mar;27(3):429-33