galactokinase deficiency

Summary
Synonym
  • Galactosemia II
Definition
A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
Super Class
galactosemia
External Links
Disease Ontology
DOID:14695
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 15 in total
Gene ID Gene Symbol Description Source
231 AKR1B1 aldo-keto reductase family 1 member B
1595 CYP51A1 cytochrome P450 family 51 subfamily A member 1
2539 G6PD glucose-6-phosphate dehydrogenase
2582 GALE UDP-galactose-4-epimerase
2584 GALK1 galactokinase 1
2592 GALT galactose-1-phosphate uridylyltransferase
2710 GK glycerol kinase
2813 GP2 glycoprotein 2
3956 LGALS1 galectin 1
4245 MGAT1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
14635 Galk1 galactokinase 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 28 in total
HPO ID HPO Term
HP:0003124 Hypercholesterolemia
HP:0001270 Motor delay
HP:0100018 Nuclear cataract
HP:0000815 Hypergonadotropic hypogonadism
HP:0011968 Feeding difficulties
HP:0001622 Premature birth
HP:0000407 Sensorineural hearing impairment
HP:0008209 Premature ovarian insufficiency
HP:0001508 Failure to thrive
HP:0012379 Abnormal circulating enzyme concentration or activity
Displaying 1 entry
Gene ID Gene Symbol Description
2584 GALK1 galactokinase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024