Disorders of galactose metabolism (Homo sapiens)

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4Congenital disorder of glycosylation, type ItPolyglucosan body neuropathyPolyglucosan body myopathy 2Glycogen storage disease 0, liverGlycogen storage disease VIGlycogen storage disease 0, muscleGlycogen storage disease IVGlycogen storage disease XVGYS1Glycogen synthesis and degradationGBE1PYGLGYG2Glycogen (n+1)GYG1GYS2Uridine diphosphate galactose-4-epimerase deficiencyGalactokinase deficiencyGalactosaemiaEnterocytesIntestinal glucose-galactose malabsorptionFanconi-Bickel syndrome(Liver) CellAKR1B12galactose dehydrogenase2GALE2PGM13GlycogenGlucose-1-phosphateGALT2SLC5A1GalactitolUDP-galactoseUDP-glucoseGalactoseGalactose-1-phosphateGlucose-6-phosphateGALK1SLC2A21D-galactonateGalactoseGalactoseDiseaseCatalysisPathwayProteinMetaboliteConversionConnection to diseaseLegend


Description

Galactose is converted into glucose 1-phosphate (G1P) through a series of steps called the Leloir pathway. The first step of the pathway is the phosphorylation of galactose by galactokinase (encoded GALK1) to yield galactose 1-phosphate. Conversion of galactose 1-phosphate to G1P requires the transfer of UDP from UDP-glucose catalyzed by GALT. UDP-galactose is converted to UDP-glucose by GALE. Glucose-1-phosphate is converted to glucose-6-phosphate by phosphoglucomutase (PGM) and vice versa.

There are two known disorders concerning the uptake transports of galactose (SGLT1 and GLUT2 deficiency) and three known disorders of galactose metabolism: galactokinase deficiency (GALK-D), galactose 1-phosphate uridyltransferase deficiency (galactosemia, GALT-D) and uridine diphosphate galactose 4-epimerase deficiency (GALE-D).

Among these, galactosemia is the most common and most severe. This pathway was inspired by Chapter 18, figure 18.3 of the book of Blau (4th edition; ISBN: 978-3-642-40337-8).

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Ontology Terms

 

Bibliography

  1. Dorit Koren, Andrew Palladino; ''Hypoglycemia. Genetic Diagnosis of endocrine disorders''; https://doi.org/10.1016/B978-0-12-800892-8.00003-8, 2016 DOI Scholia
  2. Coelho AI, Berry GT, Rubio-Gozalbo ME; ''Galactose metabolism and health.''; Curr Opin Clin Nutr Metab Care, 2015 PubMed Europe PMC Scholia
  3. Morava E; ''Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG.''; Mol Genet Metab, 2014 PubMed Europe PMC Scholia
  4. Blau, Nenad, Duran, Marinus, Gibson, K. Michael, Dionisi-Vici, Carlo.; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''; Springer-Verlag Berlin Heidelberg, ed.4. 2014. DOI Scholia

History

View all...
CompareRevisionActionTimeUserComment
134383view15:53, 21 July 2024EweitzRemove template comments
128234view13:48, 29 January 2024EweitzSoften disease color; standardize case, pathway node shape
125325view22:16, 31 January 2023LarsgwAdd DOI to reference
124893view14:29, 29 December 2022EgonwManually added the DOI identifier as identifier too
122082view13:13, 10 March 2022AlexandraboschOntology Term : 'glycogen storage disease XV' added !
122081view12:48, 10 March 2022Alexandraboschdisease label changed
122060view13:41, 9 March 2022Alexandraboschlayout changes
122043view10:59, 9 March 2022AlexandraboschOntology Term : 'GALE deficiency pathway' added !
122042view10:58, 9 March 2022AlexandraboschOntology Term : 'DOID:0050570' removed !
122041view10:58, 9 March 2022AlexandraboschOntology Term : 'congenital disorder of glycosylation It' added !
122040view10:58, 9 March 2022AlexandraboschOntology Term : 'congenital disorder of glycosylation type I' added !
122034view10:51, 9 March 2022AlexandraboschOntology Term : 'glycogen storage disease IV' added !
122033view10:49, 9 March 2022AlexandraboschOntology Term : 'glycogen storage disease' added !
122031view10:49, 9 March 2022AlexandraboschOntology Term : 'glycogen storage disease VI' added !
122028view10:43, 9 March 2022Alexandraboschcorrection of anchor attachment of disease labels
122024view10:26, 9 March 2022Alexandraboschaddition of new diseases
122001view08:52, 9 March 2022Alexandraboschaddition of legend, reference and correction of disease labels
121833view09:38, 7 March 2022AlexandraboschModified description
121832view09:35, 7 March 2022AlexandraboschModified description
121753view11:41, 3 March 2022DeSllayout changes top right corner
121752view11:39, 3 March 2022DeSlConnected PGM1, small layout changes
121751view11:37, 3 March 2022DeSlSmall layout changes
121750view11:34, 3 March 2022DeSlFixed galactose dehydrogenase ID+database
121749view11:33, 3 March 2022DeSlDisconnected GBE1 due to unclear conversion direction. Converted 1 disease to have background colour (intestinal...)
121747view11:22, 3 March 2022DeSlConverted MIM-conversion to arrow (GBE1 reaction glycogen)
121689view08:00, 25 February 2022EgonwRemoved the RHEA prefix
121537view10:07, 21 February 2022EnzoChiaradiaOntology Term : 'galactose epimerase deficiency' added !
121536view10:03, 21 February 2022EnzoChiaradiaOntology Term : 'galactokinase deficiency' added !
121514view15:06, 20 February 2022EnzoChiaradiaadded missing Rhea annotations and added identifier to PYGL
121439view13:39, 17 February 2022AlexandraboschOntology Term : 'carbohydrate metabolic pathway' added !
121438view13:38, 17 February 2022AlexandraboschOntology Term : 'classic metabolic pathway' added !
121400view10:09, 17 February 2022AlexandraboschModified description
121399view10:09, 17 February 2022AlexandraboschModified description
121391view09:47, 17 February 2022AlexandraboschOntology Term : 'glycolysis pathway' added !
121386view09:27, 17 February 2022AlexandraboschOntology Term : 'altered galactose metabolic pathway' added !
121385view09:22, 17 February 2022AlexandraboschOntology Term : 'galactose metabolic pathway' added !
121384view09:21, 17 February 2022AlexandraboschOntology Term : 'galactosemia' added !
121383view09:21, 17 February 2022AlexandraboschOntology Term : 'disease pathway' added !
121382view09:10, 17 February 2022Alexandraboschremoved wrongly placed pathway node
121184view15:08, 10 February 2022Alexandraboschaddition of OMIM disease links

correction of direction of Rhea-reactions

addition of parts to glycogen synthesis pathway
121168view12:29, 10 February 2022Alexandraboschaddition of references
121161view09:56, 10 February 2022AlexandraboschModified title
121132view15:17, 9 February 2022Alexandraboschaddition of Rhea interactions
121127view12:59, 9 February 2022AlexandraboschNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
AKR1B1GeneProductENSG00000085662 (Ensembl)
D-galactonateMetaboliteCHEBI:12931 (ChEBI)
GALEGeneProductENSG00000117308 (Ensembl)
GALK1GeneProductENSG00000108479 (Ensembl)
GALTGeneProductENSG00000213930 (Ensembl)
GBE1GeneProductENSG00000114480 (Ensembl) glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain
GYG1GeneProductENSG00000163754 (Ensembl)
  • Glycogenin-1 is involved in the biosynthesis of glycogen. It is capable of self-glucosylation, forming an oligosaccharide primer that serves as a substrate for glycogen synthase. It also plays a role in glycogen metabolism regulation
  • expressed mostly in muscles
GYG2GeneProductENSG00000056998 (Ensembl) expressed mainly in liver, cardiac muscle and other types of tissue, but not in skeletal muscle.
GYS1GeneProductENSG00000104812 (Ensembl)
  • catalyzes the rate-limiting step in glycogen synthesis in the liver and in skeletal muscle: the transfer of glucose monomers from UDP-glucose to the terminal branch of the growing glycogen chain via the formation of α(1→4) glycosidic bonds
  • GYS1: specific to skeletal muscle
GYS2GeneProductENSG00000111713 (Ensembl) GYS2: specific to liver
GalactitolMetaboliteHMDB0000107 (HMDB)
Galactose-1-phosphateMetaboliteCHEBI:17973 (ChEBI)
GalactoseMetaboliteCHEBI:28260 (ChEBI)
Glucose-1-phosphateMetaboliteCHEBI:16077 (ChEBI)
Glucose-6-phosphateMetaboliteHMDB0001401 (HMDB) search for glucose 6-phosphate
Glycogen (n+1)Metabolite9005-79-2 (CAS)
Glycogen synthesis and degradationPathwayWP500 (WikiPathways)
GlycogenMetaboliteCHEBI:28087 (ChEBI)
PGM1GeneProductENSG00000079739 (Ensembl)
PYGLGeneProductENSG00000100504 (Ensembl)
SLC2A2GeneProductENSG00000163581 (Ensembl)
SLC5A1GeneProductENSG00000100170 (Ensembl)
UDP-galactoseMetaboliteCHEBI:67119 (ChEBI)
UDP-glucoseMetaboliteCHEBI:18066 (ChEBI)
galactose dehydrogenaseProtein1.1.1.48 (Enzyme Nomenclature) "This enzyme is part of the De Ley-Doudoroff pathway, which is used by some bacteria during growth on D-galactose." Source: [https://enzyme.expasy.org/EC/1.1.1.48]

Annotated Interactions

View all...
SourceTargetTypeDatabase referenceComment
Galactose-1-phosphateGlucose-1-phosphatemim-conversion13990 (Rhea)
GalactoseD-galactonatemim-conversionQ22281942 (Wikidata)
GalactoseGalactitolmim-conversion37965 (Rhea)
GalactoseGalactose-1-phosphatemim-conversion13554 (Rhea)
Glucose-1-phosphatemim-conversion23536 (Rhea)
Glucose-6-phosphatemim-conversion23536 (Rhea)
Glycogen (n+1)Glycogenmim-conversionR-HSA-3322016.3 (Reactome)
GlycogenGlucose-1-phosphatemim-conversion41732 (Rhea)
UDP-galactosemim-conversion22170 (Rhea)
UDP-glucoseGlycogen (n+1)mim-conversion18550 (Rhea)
UDP-glucosemim-conversion19892 (Rhea)
UDP-glucosemim-conversion22169 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5173"
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