pyruvate carboxylase deficiency disease

Summary
Synonym
  • deficiency of pyruvic carboxylase
Definition
A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis.
Super Class
carbohydrate metabolic disorder
External Links
Disease Ontology
DOID:3651
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 14 in total
Gene ID Gene Symbol Description Source
1636 ACE angiotensin I converting enzyme
1737 DLAT dihydrolipoamide S-acetyltransferase
1738 DLD dihydrolipoamide dehydrogenase
1892 ECHS1 enoyl-CoA hydratase, short chain 1
4967 OGDH oxoglutarate dehydrogenase
5091 PC pyruvate carboxylase
5105 PCK1 phosphoenolpyruvate carboxykinase 1
5106 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial
5160 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1
5161 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
25104 Pc pyruvate carboxylase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
852519 PYC2 pyruvate carboxylase 2
852818 PYC1 pyruvate carboxylase 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 19 in total
HPO ID HPO Term
HP:0002151 Increased circulating lactate concentration
HP:0003577 Congenital onset
HP:0001252 Hypotonia
HP:0002415 Leukodystrophy
HP:0001249 Intellectual disability
HP:0003348 Hyperalaninemia
HP:0001943 Hypoglycemia
HP:0006970 Periventricular leukomalacia
HP:0002240 Hepatomegaly
HP:0000007 Autosomal recessive inheritance
Displaying 1 entry
Gene ID Gene Symbol Description
5091 PC pyruvate carboxylase

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024