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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 diseasesdb "29829".
- Galactokinase_deficiency emedicineSubject "ped".
- Galactokinase_deficiency emedicineTopic "815".
- Galactokinase_deficiency icd10 "E74.2".
- Galactokinase_deficiency icd9 "271.1".
- Galactokinase_deficiency omim "230200".
- Galactokinase_deficiency thumbnail Dulcitol.svg?width=300.
- Galactokinase_deficiency wikiPageID "10208840".
- Galactokinase_deficiency wikiPageRevisionID "596776731".
- Galactokinase_deficiency caption Galactitol.
- Galactokinase_deficiency diseasesdb "29829".
- Galactokinase_deficiency emedicinesubj "ped".
- Galactokinase_deficiency emedicinetopic "815".
- Galactokinase_deficiency hasPhotoCollection Galactokinase_deficiency.
- Galactokinase_deficiency icd "271.1".
- Galactokinase_deficiency icd "E74.2".
- Galactokinase_deficiency name "Galactokinase deficiency".
- Galactokinase_deficiency omim "230200".
- Galactokinase_deficiency wordnet_type synset-disease-noun-1.
- Galactokinase_deficiency subject Category:Autosomal_recessive_disorders.
- Galactokinase_deficiency subject Category:Inborn_errors_of_carbohydrate_metabolism.
- Galactokinase_deficiency type Abstraction100002137.
- Galactokinase_deficiency type Act100030358.
- Galactokinase_deficiency type Attribute100024264.
- Galactokinase_deficiency type AutosomalRecessiveDisorders.
- Galactokinase_deficiency type Condition113920835.
- Galactokinase_deficiency type Disease114070360.
- Galactokinase_deficiency type Disorder114052403.
- Galactokinase_deficiency type Event100029378.
- Galactokinase_deficiency type IllHealth114052046.
- Galactokinase_deficiency type Illness114061805.
- Galactokinase_deficiency type InbornErrorsOfCarbohydrateMetabolism.
- Galactokinase_deficiency type Mistake100070965.
- Galactokinase_deficiency type Nonaccomplishment100066216.
- Galactokinase_deficiency type PathologicalState114051917.
- Galactokinase_deficiency type PhysicalCondition114034177.
- Galactokinase_deficiency type PsychologicalFeature100023100.
- Galactokinase_deficiency type State100024720.
- Galactokinase_deficiency type YagoPermanentlyLocatedEntity.
- Galactokinase_deficiency type Disease.
- Galactokinase_deficiency type AilmentCondition.
- Galactokinase_deficiency type Situation.
- 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 "Deficiencia de galactoquinasa".
- Galactokinase_deficiency label "Galactokinase deficiency".
- Galactokinase_deficiency sameAs Deficiencia_de_galactoquinasa.
- Galactokinase_deficiency sameAs m.02q589j.
- Galactokinase_deficiency sameAs Q5517825.
- Galactokinase_deficiency sameAs Q5517825.
- Galactokinase_deficiency sameAs 430.
- Galactokinase_deficiency sameAs Galactokinase_deficiency.
- Galactokinase_deficiency wasDerivedFrom Galactokinase_deficiency?oldid=596776731.
- Galactokinase_deficiency depiction Dulcitol.svg.
- Galactokinase_deficiency isPrimaryTopicOf Galactokinase_deficiency.
- Galactokinase_deficiency name "Galactokinase deficiency".
