| dbo:abstract |
D-glycerate dehydrogenase deficiency (or 3-phosphoglycerate dehydrogenase deficiency, PHGDH deficiency, PHGDHD) is a rare autosomal metabolic disease where the young patient is unable to produce an enzyme necessary to convert 3-phosphoglycerate into 3-phosphohydroxypyruvate, which is the only way for humans to synthesize serine.This disorder is called Neu–Laxova syndrome in neonates. (en) |
| dbo:icd10 |
Q74.8 |
| dbo:medication |
dbr:Serine |
| dbo:omim |
260000 (xsd:integer) |
| dbo:symptom |
dbr:Epileptic_seizure dbr:Psychomotor_retardation dbr:Microcephaly |
| dbo:thumbnail |
wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300 |
| dbo:treatment |
dbr:Dieting |
| dbo:wikiPageID |
62469209 (xsd:integer) |
| dbo:wikiPageLength |
6754 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID |
1121069313 (xsd:integer) |
| dbo:wikiPageWikiLink |
dbr:Homozygous dbc:Syndromes_with_cleft_lip_and/or_palate dbc:Syndromes_with_craniofacial_abnormalities dbr:Phosphoglycerate_dehydrogenase dbr:Epileptic_seizure dbr:Glycine dbc:Autosomal_recessive_disorders dbr:Committed_step dbr:Compound_heterozygosity dbc:Syndromes_with_dysmelia dbr:Cysteine dbr:Psychomotor_retardation dbc:Congenital_disorders dbc:Rare_syndromes dbc:Syndromes_affecting_the_nervous_system dbr:Dieting dbr:Autosome dbr:Metabolism dbr:Microcephaly dbr:Neu–Laxova_syndrome dbr:Serine dbr:3-phosphoglycerate dbr:3-phosphohydroxypyruvate |
| dbp:caption |
Condition is acquired via an autosomal recessive pattern (en) |
| dbp:causes |
Genetic (en) |
| dbp:field |
dbr:Metabolism |
| dbp:frequency |
<1 / 1 000 000 (en) |
| dbp:gard |
2836 (xsd:integer) |
| dbp:icd |
(en) Q74.8 (en) |
| dbp:medication |
Serine (en) |
| dbp:name |
D-glycerate dehydrogenase deficiency (en) |
| dbp:omim |
260000 (xsd:integer) |
| dbp:onset |
Adolescent, Infancy, Childhood (en) |
| dbp:prevention |
N/A (en) |
| dbp:prognosis |
Shortened life expectancy (en) |
| dbp:symptoms |
Congenital microcephaly, psychomotor retardation and seizures in infants, moderate developmental delay and behavioral disorders juveniles. (en) |
| dbp:synonyms |
3 (xsd:integer) |
| dbp:treatment |
dbr:Dieting |
| dbp:umls |
268165.0 |
| dbp:wikiPageUsesTemplate |
dbt:Cn dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Short_description |
| dcterms:subject |
dbc:Syndromes_with_cleft_lip_and/or_palate dbc:Syndromes_with_craniofacial_abnormalities dbc:Autosomal_recessive_disorders dbc:Syndromes_with_dysmelia dbc:Congenital_disorders dbc:Rare_syndromes dbc:Syndromes_affecting_the_nervous_system |
| rdf:type |
owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment |
D-glycerate dehydrogenase deficiency (or 3-phosphoglycerate dehydrogenase deficiency, PHGDH deficiency, PHGDHD) is a rare autosomal metabolic disease where the young patient is unable to produce an enzyme necessary to convert 3-phosphoglycerate into 3-phosphohydroxypyruvate, which is the only way for humans to synthesize serine.This disorder is called Neu–Laxova syndrome in neonates. (en) |
| rdfs:label |
D-glycerate dehydrogenase deficiency (en) |
| owl:sameAs |
wikidata:D-glycerate dehydrogenase deficiency https://global.dbpedia.org/id/C23fD |
| prov:wasDerivedFrom |
wikipedia-en:D-glycerate_dehydrogenase_deficiency?oldid=1121069313&ns=0 |
| foaf:depiction |
wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg |
| foaf:isPrimaryTopicOf |
wikipedia-en:D-glycerate_dehydrogenase_deficiency |
| foaf:name |
D-glycerate dehydrogenase deficiency (en) |
| is dbo:wikiPageRedirects of |
dbr:PHGDHD dbr:PHGDH_deficiency dbr:3-phosphoglycerate_dehydrogenase_deficiency |
| is dbo:wikiPageWikiLink of |
dbr:List_of_diseases_(D) dbr:Phosphoglycerate_dehydrogenase dbr:PHGDHD dbr:PHGDH_deficiency dbr:3-phosphoglycerate_dehydrogenase_deficiency |
| is foaf:primaryTopic of |
wikipedia-en:D-glycerate_dehydrogenase_deficiency |
