Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
pyruvate decarboxylase deficiency
Summary
- Synonym
-
- deficiency of pyruvic dehydrogenase
- pyruvate dehydrogenase complex deficiency disease
- pyruvate dehydrogenase deficiency
- Definition
- A 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.
- Super Class
- carbohydrate metabolic disorder
External Links
- Disease Ontology
- DOID:3649
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1737 | DLAT | dihydrolipoamide S-acetyltransferase | |
| 5160 | PDHA1 | pyruvate dehydrogenase E1 subunit alpha 1 | |
| 5162 | PDHB | pyruvate dehydrogenase E1 subunit beta | |
| 8050 | PDHX | pyruvate dehydrogenase complex component X | |
| 54704 | PDP1 | pyruvate dehydrogenase phosphatase catalytic subunit 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P26284 | Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001302 | Pachygyria |
| HP:0001315 | Reduced tendon reflexes |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001999 | Abnormal facial shape |
| HP:0002079 | Hypoplasia of the corpus callosum |
