pyruvate decarboxylase deficiency

carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex
MedicalCondition developmental_defect_during_embryogenesis Q7263801
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pyruvate decarboxylase deficiency

Summary

pyruvate decarboxylase deficiency is a developmental defect during embryogenesis[1]. It has Wikipedia articles in 7 language editions, a strong signal of global cultural recognition.[2]

Key Facts

  • pyruvate decarboxylase deficiency's instance of is recorded as developmental defect during embryogenesis[3].
  • pyruvate decarboxylase deficiency's instance of is recorded as rare disease[4].
  • pyruvate decarboxylase deficiency's instance of is recorded as class of disease[5].
  • pyruvate decarboxylase deficiency is a type of carbohydrate metabolic disorder[6].
  • pyruvate decarboxylase deficiency's ICD-9-CM is recorded as 277.6[7].
  • pyruvate decarboxylase deficiency's NCI Thesaurus ID is recorded as C103968[8].
  • pyruvate decarboxylase deficiency's health specialty is recorded as endocrinology[9].
  • pyruvate decarboxylase deficiency's genetic association is recorded as PDHA1[10].
  • pyruvate decarboxylase deficiency's genetic association is recorded as PDHB[11].
  • pyruvate decarboxylase deficiency's genetic association is recorded as DLAT[12].
  • pyruvate decarboxylase deficiency's genetic association is recorded as PDP1[13].
  • pyruvate decarboxylase deficiency's genetic association is recorded as PDX1[14].
  • pyruvate decarboxylase deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_3649[15].
  • pyruvate decarboxylase deficiency's exact match is recorded as http://identifiers.org/doid/DOID:3649[16].
  • pyruvate decarboxylase deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_765[17].
  • pyruvate decarboxylase deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79243[18].
  • pyruvate decarboxylase deficiency's on focus list of Wikimedia project is recorded as WikiProject Medicine[19].

Why It Matters

pyruvate decarboxylase deficiency has Wikipedia articles in 7 language editions, a strong signal of global cultural recognition.[2] It is known by 14 alternative names across languages and contexts.[20]

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [3] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . wikidata.org.
  4. [6] . Disease Ontology. Retrieved . wikidata.org.
  5. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] . Disease Ontology. Retrieved . wikidata.org.
  7. [9] . wikidata.org.
  8. [10] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  9. [11] . Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. wikidata.org.
  10. [12] . Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. wikidata.org.
  11. [13] . Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. wikidata.org.
  12. [14] . Mutations in PDX1, the Human Lipoyl-Containing Component X of the Pyruvate Dehydrogenase–Complex Gene on Chromosome 11p1, in Congenital Lactic Acidosis. wikidata.org.
  13. [15] . Disease Ontology. Retrieved . wikidata.org.
  14. [16] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  15. [17] . wikidata.org.
  16. [18] . wikidata.org.
  17. [19] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] . Wikidata sitelinks. wikidata.org.
  2. [20] . Wikidata aliases. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). pyruvate decarboxylase deficiency. Retrieved May 3, 2026, from https://4ort.xyz/entity/pyruvate-decarboxylase-deficiency
MLA “pyruvate decarboxylase deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/pyruvate-decarboxylase-deficiency.
BibTeX @misc{4ortxyz_pyruvate-decarboxylase-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{pyruvate decarboxylase deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/pyruvate-decarboxylase-deficiency}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): pyruvate decarboxylase deficiency — https://4ort.xyz/entity/pyruvate-decarboxylase-deficiency (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/pyruvate-decarboxylase-deficiency · Last refreshed:

Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 8d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of carbohydrate metabolic disorder
    Health specialty endocrinology
    Genetic association PDHA1, PDHB, DLAT +2
    Subclass of
    + 4 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"
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