Galactokinase deficiency

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Galactokinase deficiency
Dulcitol.png
Galactitol
ICD-10 E74.2
ICD-9 271.1
OMIM 230200
DiseasesDB 29829
eMedicine ped/815 

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Galactokinase deficiency

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Overview

Galactokinase deficiency, also known as Galactosemia type 2 or GALK deficiency, is marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.[1]

Causes

This is a congenital disease, and unlike galactose-1-phosphate uridyltransferase deficiency, the symptoms are relatively mild. The only known symptom in affected children is cataracts, which can present as a failure to develop a social smile, and failure to visually track moving objects.

Treatment

Galactokinase deficiency is treated with a diet low in galactose.[2]

See also

References

  1. Holton JB (1990). "Galactose disorders: an overview". J. Inherit. Metab. Dis. 13 (4): 476-86. PMID 2122114.
  2. Gitzelmann R, Steinmann B (1984). "Galactosemia: how does long-term treatment change the outcome?". Enzyme 32 (1): 37-46. PMID 6479120.
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| group5 = Clinical Trials Involving Galactokinase deficiency | list5 = Ongoing Trials on Galactokinase deficiency at Clinical Trials.govTrial results on Galactokinase deficiencyClinical Trials on Galactokinase deficiency at Google


| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Galactokinase deficiency | list6 = US National Guidelines Clearinghouse on Galactokinase deficiencyNICE Guidance on Galactokinase deficiencyNHS PRODIGY GuidanceFDA on Galactokinase deficiencyCDC on Galactokinase deficiency


| group7 = Textbook Information on Galactokinase deficiency | list7 = Books and Textbook Information on Galactokinase deficiency


| group8 = Pharmacology Resources on Galactokinase deficiency | list8 = AND (Dose)}} Dosing of Galactokinase deficiencyAND (drug interactions)}} Drug interactions with Galactokinase deficiencyAND (side effects)}} Side effects of Galactokinase deficiencyAND (Allergy)}} Allergic reactions to Galactokinase deficiencyAND (overdose)}} Overdose information on Galactokinase deficiencyAND (carcinogenicity)}} Carcinogenicity information on Galactokinase deficiencyAND (pregnancy)}} Galactokinase deficiency in pregnancyAND (pharmacokinetics)}} Pharmacokinetics of Galactokinase deficiency


| group9 = Genetics, Pharmacogenomics, and Proteinomics of Galactokinase deficiency | list9 = AND (pharmacogenomics)}} Genetics of Galactokinase deficiencyAND (pharmacogenomics)}} Pharmacogenomics of Galactokinase deficiencyAND (proteomics)}} Proteomics of Galactokinase deficiency


| group10 = Newstories on Galactokinase deficiency | list10 = Galactokinase deficiency in the newsBe alerted to news on Galactokinase deficiencyNews trends on Galactokinase deficiency</small>


| group11 = Commentary on Galactokinase deficiency | list11 = Blogs on Galactokinase deficiency

| group12 = Patient Resources on Galactokinase deficiency | list12 = Patient resources on Galactokinase deficiencyDiscussion groups on Galactokinase deficiencyPatient Handouts on Galactokinase deficiencyDirections to Hospitals Treating Galactokinase deficiencyRisk calculators and risk factors for Galactokinase deficiency


| group13 = Healthcare Provider Resources on Galactokinase deficiency | list13 = Symptoms of Galactokinase deficiencyCauses & Risk Factors for Galactokinase deficiencyDiagnostic studies for Galactokinase deficiencyTreatment of Galactokinase deficiency

| group14 = Continuing Medical Education (CME) Programs on Galactokinase deficiency | list14 = CME Programs on Galactokinase deficiency

| group15 = International Resources on Galactokinase deficiency | list15 = Galactokinase deficiency en EspanolGalactokinase deficiency en Francais

| group16 = Business Resources on Galactokinase deficiency | list16 = Galactokinase deficiency in the MarketplacePatents on Galactokinase deficiency

| group17 = Informatics Resources on Galactokinase deficiency | list17 = List of terms related to Galactokinase deficiency


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