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Direct and maternal aspects of the risk of cataract with partial disorders of galactose metabolism.
Clin Genet. 1985 Sep; 28(3):199-206.CG

Abstract

Partial deficiencies of the enzymes of galactose metabolism can be associated with cataract, both directly and through maternal effects during pregnancy on enzymatically normal children. However, the associations are modest, variable and not obviously expressing cause and effect. We have recorded ophthalmological and biochemical observations including oral galactose tolerance on families with established enzyme deficiencies and/or cataracts, including possible effects during pregnancy. With the partial disorders a simple relationship between the extent of biochemical abnormality and the risk of cataract is not apparent and the association may be substantially coincidental. Cataract is common, and the attractive possibility that expression is significantly due to heterozygous or lesser deficiency of the enzymes of galactose metabolism, amenable to early dietary control of children or mothers at risk, is on present evidence not well supported.

Authors

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Pub Type(s)

Journal Article

Language

eng

PubMed ID

4064358

Citation

Winder, A F., et al. "Direct and Maternal Aspects of the Risk of Cataract With Partial Disorders of Galactose Metabolism." Clinical Genetics, vol. 28, no. 3, 1985, pp. 199-206.
Winder AF, Fielder AR, Mount JN, et al. Direct and maternal aspects of the risk of cataract with partial disorders of galactose metabolism. Clin Genet. 1985;28(3):199-206.
Winder, A. F., Fielder, A. R., Mount, J. N., & Menzies, J. S. (1985). Direct and maternal aspects of the risk of cataract with partial disorders of galactose metabolism. Clinical Genetics, 28(3), 199-206.
Winder AF, et al. Direct and Maternal Aspects of the Risk of Cataract With Partial Disorders of Galactose Metabolism. Clin Genet. 1985;28(3):199-206. PubMed PMID: 4064358.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Direct and maternal aspects of the risk of cataract with partial disorders of galactose metabolism. AU - Winder,A F, AU - Fielder,A R, AU - Mount,J N, AU - Menzies,J S, PY - 1985/9/1/pubmed PY - 1985/9/1/medline PY - 1985/9/1/entrez SP - 199 EP - 206 JF - Clinical genetics JO - Clin Genet VL - 28 IS - 3 N2 - Partial deficiencies of the enzymes of galactose metabolism can be associated with cataract, both directly and through maternal effects during pregnancy on enzymatically normal children. However, the associations are modest, variable and not obviously expressing cause and effect. We have recorded ophthalmological and biochemical observations including oral galactose tolerance on families with established enzyme deficiencies and/or cataracts, including possible effects during pregnancy. With the partial disorders a simple relationship between the extent of biochemical abnormality and the risk of cataract is not apparent and the association may be substantially coincidental. Cataract is common, and the attractive possibility that expression is significantly due to heterozygous or lesser deficiency of the enzymes of galactose metabolism, amenable to early dietary control of children or mothers at risk, is on present evidence not well supported. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/4064358/Direct_and_maternal_aspects_of_the_risk_of_cataract_with_partial_disorders_of_galactose_metabolism_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1985&volume=28&issue=3&spage=199 DB - PRIME DP - Unbound Medicine ER -