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Galactose and cataract.
Surv Ophthalmol. 1988 Mar-Apr; 32(5):333-49.SO

Abstract

Galactosemia is a disorder caused by a deficiency of any one of three possible enzymes involved in the metabolism of galactose: galactokinase, transferase or epimerase. Any single deficient enzyme can result in cataract through the accumulation of galactitol in the lens. The ophthalmologist may play an important role in this disease, since early recognition of cataract development followed by the initiation of a galactose-free diet may lead to clearing of lenticular opacities. The clinical and laboratory findings that distinguish the three enzyme deficiency disorders of galactosemia are discussed. The biochemical genetics of each enzyme also are reviewed, along with the recent evidence linking heterozygous galactokinase deficiency and presenile cataract.

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Publisher Full Text

Authors+Show Affiliations

Stambolian D
Department of Ophthalmology, Scheie Eye Institute, Philadelphia, Pennsylvania.

MeSH

AnimalsCataractFemaleGalactokinaseGalactoseGalactosemiasGenesHumansMethodsMolecular BiologyPregnancyPregnancy ComplicationsUDPglucose 4-EpimeraseUTP-Hexose-1-Phosphate Uridylyltransferase

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

3043741

Citation

Stambolian, D. "Galactose and Cataract." Survey of Ophthalmology, vol. 32, no. 5, 1988, pp. 333-49.
Stambolian D. Galactose and cataract. Surv Ophthalmol. 1988;32(5):333-49.
Stambolian, D. (1988). Galactose and cataract. Survey of Ophthalmology, 32(5), 333-49.
Stambolian D. Galactose and Cataract. Surv Ophthalmol. 1988 Mar-Apr;32(5):333-49. PubMed PMID: 3043741.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Galactose and cataract. A1 - Stambolian,D, PY - 1988/3/1/pubmed PY - 1988/3/1/medline PY - 1988/3/1/entrez SP - 333 EP - 49 JF - Survey of ophthalmology JO - Surv Ophthalmol VL - 32 IS - 5 N2 - Galactosemia is a disorder caused by a deficiency of any one of three possible enzymes involved in the metabolism of galactose: galactokinase, transferase or epimerase. Any single deficient enzyme can result in cataract through the accumulation of galactitol in the lens. The ophthalmologist may play an important role in this disease, since early recognition of cataract development followed by the initiation of a galactose-free diet may lead to clearing of lenticular opacities. The clinical and laboratory findings that distinguish the three enzyme deficiency disorders of galactosemia are discussed. The biochemical genetics of each enzyme also are reviewed, along with the recent evidence linking heterozygous galactokinase deficiency and presenile cataract. SN - 0039-6257 UR - https://www.unboundmedicine.com/medline/citation/3043741/Galactose_and_cataract_ L2 - https://linkinghub.elsevier.com/retrieve/pii/0039-6257(88)90095-1 DB - PRIME DP - Unbound Medicine ER -