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Standards Ontologies Notations
propionic acidemia

Summary
Synonym
  • GLYCINEMIA, KETOTIC
  • KETOTIC HYPERGLYCINEMIA
  • ketotic II glycinemia
  • ketotic glycinemia
  • propionic aciduria
  • propionyl-CoA carboxylase deficiency
Definition
An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy.
Super Class
organic acidemia
Disease Ontology
DOID:14701
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
5095 PCCA propionyl-CoA carboxylase subunit alpha
5096 PCCB propionyl-CoA carboxylase subunit beta
Displaying 1 entry
Gene ID Gene Symbol Description Source
66904 Pccb propionyl Coenzyme A carboxylase, beta polypeptide
Displaying 1 entry
Gene ID Gene Symbol Description Source
687008 Pcca propionyl-CoA carboxylase subunit alpha
The Human Phenotype Ontology
Displaying entries 1 - 10 of 40 in total
HPO ID HPO Term
HP:0001943 Hypoglycemia
HP:0002240 Hepatomegaly
HP:0001263 Global developmental delay
HP:0010978 Abnormality of immune system physiology
HP:0001992 Organic aciduria
HP:0001249 Intellectual disability
HP:0003353 Propionyl-CoA carboxylase deficiency
HP:0001987 Hyperammonemia
HP:0011675 Arrhythmia
HP:0001638 Cardiomyopathy
Displaying all 2 entries
Gene ID Gene Symbol Description
5095 PCCA propionyl-CoA carboxylase subunit alpha
5096 PCCB propionyl-CoA carboxylase subunit beta
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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

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Last updated: December 9, 2024