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Association of presenile cataracts with heterozygosity for galactosaemic states and with riboflavin deficiency.
Lancet 1978; 1(8054):12-3Lct

Abstract

Red cells and the lens of the eye are non-nucleated cells; moreover, they have metabolic similarities. Cataracts develop in childhood in homozygotes for galactosaemic abnormalities, which can be detected by biochemical measurements in red blood-cells. It has not been determined whether heterozygotes for these defects are at greater risk for cataract development later in life. Similarly, riboflavin deficiecy for which the erythrocyte is a sensitive indicator, has been associated with cataracts in animals. Red-cell studies were carried out in 22 patients, aged under 50, with cataracts. Heterozygosity for galactokinase deficiency was detected in 5 patients, for galactose-uridyl transferase in 2, and evidence of an erythrocytic deficiency of riboflavin in 8. Even when Black subjects were excluded from analysis because of their high incidence of polymorphism for galactokinase, these findings are significantly different from those expected from population surveys and suggest that many patients with presenile cataracts have a biochemical abnormality which can be detected by examination of red blood-cells and which may be corrected by dietary restrictions or supplements.

Authors

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Pub Type(s)

Journal Article

Language

eng

PubMed ID

74495

Citation

Prchal, J T., et al. "Association of Presenile Cataracts With Heterozygosity for Galactosaemic States and With Riboflavin Deficiency." Lancet (London, England), vol. 1, no. 8054, 1978, pp. 12-3.
Prchal JT, Conrad ME, Skalka HW. Association of presenile cataracts with heterozygosity for galactosaemic states and with riboflavin deficiency. Lancet. 1978;1(8054):12-3.
Prchal, J. T., Conrad, M. E., & Skalka, H. W. (1978). Association of presenile cataracts with heterozygosity for galactosaemic states and with riboflavin deficiency. Lancet (London, England), 1(8054), pp. 12-3.
Prchal JT, Conrad ME, Skalka HW. Association of Presenile Cataracts With Heterozygosity for Galactosaemic States and With Riboflavin Deficiency. Lancet. 1978 Jan 7;1(8054):12-3. PubMed PMID: 74495.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of presenile cataracts with heterozygosity for galactosaemic states and with riboflavin deficiency. AU - Prchal,J T, AU - Conrad,M E, AU - Skalka,H W, PY - 1978/1/7/pubmed PY - 1978/1/7/medline PY - 1978/1/7/entrez SP - 12 EP - 3 JF - Lancet (London, England) JO - Lancet VL - 1 IS - 8054 N2 - Red cells and the lens of the eye are non-nucleated cells; moreover, they have metabolic similarities. Cataracts develop in childhood in homozygotes for galactosaemic abnormalities, which can be detected by biochemical measurements in red blood-cells. It has not been determined whether heterozygotes for these defects are at greater risk for cataract development later in life. Similarly, riboflavin deficiecy for which the erythrocyte is a sensitive indicator, has been associated with cataracts in animals. Red-cell studies were carried out in 22 patients, aged under 50, with cataracts. Heterozygosity for galactokinase deficiency was detected in 5 patients, for galactose-uridyl transferase in 2, and evidence of an erythrocytic deficiency of riboflavin in 8. Even when Black subjects were excluded from analysis because of their high incidence of polymorphism for galactokinase, these findings are significantly different from those expected from population surveys and suggest that many patients with presenile cataracts have a biochemical abnormality which can be detected by examination of red blood-cells and which may be corrected by dietary restrictions or supplements. SN - 0140-6736 UR - https://www.unboundmedicine.com/medline/citation/74495/Association_of_presenile_cataracts_with_heterozygosity_for_galactosaemic_states_and_with_riboflavin_deficiency_ L2 - http://www.diseaseinfosearch.org/result/1165 DB - PRIME DP - Unbound Medicine ER -