Duarte galactosemia (original) (raw)
Duarte galactosemia is an inherited condition associated with diminished ability to metabolize galactose due to a partial deficiency of the enzyme galactose-1-phosphate uridylyltransferase. DG differs from classic galactosemia in that patients with Duarte galactosemia have partial GALT deficiency whereas patients with classic galactosemia have complete, or almost complete, GALT deficiency. Duarte galactosemia (DG) is much more common than classic galactosemia, and is estimated to affect close to one in 4,000 infants born in the United States. Historically, most healthcare professionals have considered DG to be clinically mild based on pilot studies and anecdotal experience, and in 2019 a large study confirmed that children with DG are not at increased risk for developmental problems relat
| Property | Value |
|---|---|
| dbo:abstract | Duarte galactosemia is an inherited condition associated with diminished ability to metabolize galactose due to a partial deficiency of the enzyme galactose-1-phosphate uridylyltransferase. DG differs from classic galactosemia in that patients with Duarte galactosemia have partial GALT deficiency whereas patients with classic galactosemia have complete, or almost complete, GALT deficiency. Duarte galactosemia (DG) is much more common than classic galactosemia, and is estimated to affect close to one in 4,000 infants born in the United States. Historically, most healthcare professionals have considered DG to be clinically mild based on pilot studies and anecdotal experience, and in 2019 a large study confirmed that children with DG are not at increased risk for developmental problems relative to children who do not have DG. Due to regional variations in newborn screening (NBS) protocols, some infants with DG are identified by NBS but others are not. (en) |
| dbo:synonym | Duarte variant galactosemia, DG, or Biochemical variant galactosemia) |
| dbo:thumbnail | wiki-commons:Special:FilePath/Leloir_pathway_cropped.jpg?width=300 |
| dbo:wikiPageExternalLink | http://duartegalactosemia.org/ http://www.pcori.org/research-results/2015/intervention-and-outcomes-duarte-galactosemia http://www.galactosemia.org https://books.google.com/books%3Fid=97zoCAAAQBAJ%7Cpublisher https://books.google.com/books%3Fid=Z2YNhh51SmQC%7Cpublisher https://www.ncbi.nlm.nih.gov/books/NBK258640 |
| dbo:wikiPageID | 48328196 (xsd:integer) |
| dbo:wikiPageLength | 20497 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID | 1100633041 (xsd:integer) |
| dbo:wikiPageWikiLink | dbr:Mutation dbr:Galactose dbr:Galactose_epimerase_deficiency dbr:Galactosemia dbc:Galactose dbr:Galactokinase_deficiency dbr:Galactose-1-phosphate_uridylyltransferase dbr:Galactose-1-phosphate_uridylyltransferase_deficiency dbr:Leloir_pathway dbr:Newborn_screening dbc:Metabolic_disorders dbr:Dominance_(genetics) dbr:Neonatal_Jaundice dbr:Fanconi_Bickel_syndrome dbr:File:DG_autosomal_recessive_cropped.jpeg |
| dbp:caption | Leloir metabolic pathway: Galactose-1Puridylyltransferase is the middle enzyme in the Leloir pathway of galactose metabolism. (en) |
| dbp:synonym | Duarte variant galactosemia, DG, or Biochemical variant galactosemia) (en) |
| dbp:wikiPageUsesTemplate | dbt:Cite_book dbt:Infobox_medical_condition_(new) dbt:Medicine |
| dct:subject | dbc:Galactose dbc:Metabolic_disorders |
| gold:hypernym | dbr:Condition |
| rdf:type | owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment | Duarte galactosemia is an inherited condition associated with diminished ability to metabolize galactose due to a partial deficiency of the enzyme galactose-1-phosphate uridylyltransferase. DG differs from classic galactosemia in that patients with Duarte galactosemia have partial GALT deficiency whereas patients with classic galactosemia have complete, or almost complete, GALT deficiency. Duarte galactosemia (DG) is much more common than classic galactosemia, and is estimated to affect close to one in 4,000 infants born in the United States. Historically, most healthcare professionals have considered DG to be clinically mild based on pilot studies and anecdotal experience, and in 2019 a large study confirmed that children with DG are not at increased risk for developmental problems relat (en) |
| rdfs:label | Duarte galactosemia (en) |
| owl:sameAs | yago-res:Duarte galactosemia wikidata:Duarte galactosemia https://global.dbpedia.org/id/2PSYA |
| prov:wasDerivedFrom | wikipedia-en:Duarte_galactosemia?oldid=1100633041&ns=0 |
| foaf:depiction | wiki-commons:Special:FilePath/DG_autosomal_recessive_cropped.jpeg wiki-commons:Special:FilePath/Leloir_pathway_cropped.jpg |
| foaf:isPrimaryTopicOf | wikipedia-en:Duarte_galactosemia |
| is dbo:wikiPageWikiLink of | dbr:Galactosemia dbr:Galactose-1-phosphate_uridylyltransferase_deficiency dbr:Transferase |
| is foaf:primaryTopic of | wikipedia-en:Duarte_galactosemia |
