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Article

Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract.

Journal of inherited metabolic disease - 1 Jan 2003

Karas N, Gobec L, Pfeifer V, Mlinar B, Battelino T, Lukac-Bajalo J

Abstract excerpt

Impaired activity of the enzyme galactose-1-phosphate uridyltransferase (GALT) has been proposed as a risk factor for idiopathic presenile cataract. A study was undertaken to determine the prevalence of the three most common mutations in the GALT gene (Q188R, K285N and N314D, including its variant Duarte-2) in a group of Slovenian patients with idiopathic presenile cataract. GALT activity was determined in the...

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Source

Identifiers

PMID: 14707519
DOI: 10.1023/b:boli.0000005660.88944.2f

Genes

GALT

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract.PMID 14707519Read ↗

Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population.Semantic proximity Read ↗

Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.Semantic proximity Read ↗

Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.Semantic proximity Read ↗

Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.Semantic proximity Read ↗

Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.Semantic proximity Read ↗

Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia.Semantic proximity Read ↗

Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).Semantic proximity Read ↗

The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.Semantic proximity Read ↗

Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population.Semantic proximity Read ↗

Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.Semantic proximity Read ↗

Clinical features of galactokinase deficiency:A review of the literatureSemantic proximity Read ↗

Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.Semantic proximity Read ↗

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