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- Galactokinase_deficiency abstract "Galactokinase deficiency, also known as Galactosemia type 2 or GALK deficiency, is an autosomal recessive metabolic disorder marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. The disorder is caused by mutations in the GALK1 gene, located on chromosome 17q24. Galactokinase catalyzes the first step of galactose phosphorylation in the Leloir pathway of intermediate metabolism. Galactokinase deficiency is one of the three inborn errors of metabolism that lead to hypergalactosemia. The disorder is inherited as an autosomal recessive trait. Unlike classic galactosemia, which is caused by deficiency of galactose-1-phosphate uridyltransferase, galactokinase deficiency does not present with severe manifestations in early infancy. Its major clinical symptom is the development of cataracts during the first weeks or months of life, as a result of the accumulation, in the lens, of galactitol, a product of an alternative route of galactose utilization. The development of early cataracts in homozygous affected infants is fully preventable through early diagnosis and treatment with a galactose-restricted diet. Some studies have suggested that, depending on milk consumption later in life, heterozygous carriers of galactokinase deficiency may be prone to presenile cataracts at 20–50 years of age.".
- Galactokinase_deficiency thumbnail Dulcitol.svg?width=300.
- Galactokinase_deficiency wikiPageID "10208840".
- Galactokinase_deficiency wikiPageLength "5784".
- Galactokinase_deficiency wikiPageOutDegree "22".
- Galactokinase_deficiency wikiPageRevisionID "678818334".
- Galactokinase_deficiency wikiPageWikiLink Autosome.
- Galactokinase_deficiency wikiPageWikiLink Cataract.
- Galactokinase_deficiency wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Galactokinase_deficiency wikiPageWikiLink Category:Inborn_errors_of_carbohydrate_metabolism.
- Galactokinase_deficiency wikiPageWikiLink Chromosome.
- Galactokinase_deficiency wikiPageWikiLink Chromosome_17_(human).
- Galactokinase_deficiency wikiPageWikiLink Dominance_(genetics).
- Galactokinase_deficiency wikiPageWikiLink Galactitol.
- Galactokinase_deficiency wikiPageWikiLink Galactokinase.
- Galactokinase_deficiency wikiPageWikiLink Galactose.
- Galactokinase_deficiency wikiPageWikiLink Galactose-1-phosphate_uridylyltransferase_deficiency.
- Galactokinase_deficiency wikiPageWikiLink Galactose_1-phosphate.
- Galactokinase_deficiency wikiPageWikiLink Galactosemia.
- Galactokinase_deficiency wikiPageWikiLink Genetic_carrier.
- Galactokinase_deficiency wikiPageWikiLink Inborn_error_of_metabolism.
- Galactokinase_deficiency wikiPageWikiLink Lens_(anatomy).
- Galactokinase_deficiency wikiPageWikiLink Social_smile.
- Galactokinase_deficiency wikiPageWikiLink File:Autosomal_recessive_-_en.svg.
- Galactokinase_deficiency wikiPageWikiLinkText "GALK (galactokinase) deficiency".
- Galactokinase_deficiency wikiPageWikiLinkText "Galactokinase deficiency".
- Galactokinase_deficiency wikiPageWikiLinkText "galactokinase deficiency".
- Galactokinase_deficiency caption Galactitol.
- Galactokinase_deficiency diseasesdb "29829".
- Galactokinase_deficiency emedicinesubj "ped".
- Galactokinase_deficiency emedicinetopic "815".
- Galactokinase_deficiency icd "271.1".
- Galactokinase_deficiency icd "E74.2".
- Galactokinase_deficiency name "Galactokinase deficiency".
- Galactokinase_deficiency omim "230200".
- Galactokinase_deficiency wikiPageUsesTemplate Template:Carbohydrate_metabolic_pathology.
- Galactokinase_deficiency wikiPageUsesTemplate Template:Infobox_Disease.
- Galactokinase_deficiency wikiPageUsesTemplate Template:Reflist.
- Galactokinase_deficiency subject Category:Autosomal_recessive_disorders.
- Galactokinase_deficiency subject Category:Inborn_errors_of_carbohydrate_metabolism.
- Galactokinase_deficiency hypernym Disorder.
- Galactokinase_deficiency type Disease.
- Galactokinase_deficiency type Disorder.
- Galactokinase_deficiency type Error.
- Galactokinase_deficiency comment "Galactokinase deficiency, also known as Galactosemia type 2 or GALK deficiency, is an autosomal recessive metabolic disorder marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. The disorder is caused by mutations in the GALK1 gene, located on chromosome 17q24. Galactokinase catalyzes the first step of galactose phosphorylation in the Leloir pathway of intermediate metabolism.".
- Galactokinase_deficiency label "Galactokinase deficiency".
- Galactokinase_deficiency sameAs Q5517825.
- Galactokinase_deficiency sameAs Deficiencia_de_galactoquinasa.
- Galactokinase_deficiency sameAs نقص_گالاکتوکیناز.
- Galactokinase_deficiency sameAs m.02q589j.
- Galactokinase_deficiency sameAs Q5517825.
- Galactokinase_deficiency wasDerivedFrom Galactokinase_deficiency?oldid=678818334.
- Galactokinase_deficiency depiction Dulcitol.svg.
- Galactokinase_deficiency isPrimaryTopicOf Galactokinase_deficiency.