An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

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.

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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
dbo:omim
  • 260000 (xsd:integer)
dbo:symptom
dbo:thumbnail
dbo:treatment
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  • 62469209 (xsd:integer)
dbo:wikiPageLength
  • 6754 (xsd:nonNegativeInteger)
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  • 1121069313 (xsd:integer)
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dbp:caption
  • Condition is acquired via an autosomal recessive pattern (en)
dbp:causes
  • Genetic (en)
dbp:field
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
dbp:umls
  • 268165.0
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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)
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foaf:depiction
foaf:isPrimaryTopicOf
foaf:name
  • D-glycerate dehydrogenase deficiency (en)
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