Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05165 | Propionyl-CoA carboxylase alpha chain, mitochondrial | |
| P05166 | Propionyl-CoA carboxylase beta chain, mitochondrial | |
| P22033 | Methylmalonyl-CoA mutase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001992 | Organic aciduria |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000939 | Osteoporosis |
| HP:0000964 | Eczematoid dermatitis |
| HP:0001250 | Seizure |
| HP:0001254 | Lethargy |
| HP:0001259 | Coma |
| HP:0001332 | Dystonia |
| HP:0001508 | Failure to thrive |
| HP:0001733 | Pancreatitis |
