# 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

**Wikidata**: [Q7263801](https://www.wikidata.org/wiki/Q7263801)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency)  
**Source**: https://4ort.xyz/entity/pyruvate-decarboxylase-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000131828/MONDO_0010717)
6. Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency
7. Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency
8. Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation
9. Mutations in PDX1, the Human Lipoyl-Containing Component X of the Pyruvate Dehydrogenase–Complex Gene on Chromosome 11p1, in Congenital Lactic Acidosis
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)