Galactokinase deficiency

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

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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.

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.

See also

• Galactosemia

References

Cost Effectiveness of Galactokinase deficiency

| group5 = Clinical Trials Involving Galactokinase deficiency | list5 = Ongoing Trials on Galactokinase deficiency at Clinical Trials.gov • Trial results on Galactokinase deficiency • Clinical Trials on Galactokinase deficiency at Google

| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Galactokinase deficiency | list6 = US National Guidelines Clearinghouse on Galactokinase deficiency • NICE Guidance on Galactokinase deficiency • NHS PRODIGY Guidance • FDA on Galactokinase deficiency • CDC 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 deficiency • AND (drug interactions)}} Drug interactions with Galactokinase deficiency • AND (side effects)}} Side effects of Galactokinase deficiency • AND (Allergy)}} Allergic reactions to Galactokinase deficiency • AND (overdose)}} Overdose information on Galactokinase deficiency • AND (carcinogenicity)}} Carcinogenicity information on Galactokinase deficiency • AND (pregnancy)}} Galactokinase deficiency in pregnancy • AND (pharmacokinetics)}} Pharmacokinetics of Galactokinase deficiency •

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

| group10 = Newstories on Galactokinase deficiency | list10 = Galactokinase deficiency in the news • Be alerted to news on Galactokinase deficiency • News 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 deficiency • Discussion groups on Galactokinase deficiency • Patient Handouts on Galactokinase deficiency • Directions to Hospitals Treating Galactokinase deficiency • Risk calculators and risk factors for Galactokinase deficiency

| group13 = Healthcare Provider Resources on Galactokinase deficiency | list13 = Symptoms of Galactokinase deficiency • Causes & Risk Factors for Galactokinase deficiency • Diagnostic studies for Galactokinase deficiency • Treatment 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 Espanol • Galactokinase deficiency en Francais

| group16 = Business Resources on Galactokinase deficiency | list16 = Galactokinase deficiency in the Marketplace • Patents on Galactokinase deficiency

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

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